VCV000220816.12 - ClinVar

NM_007294.4(BRCA1):c.*58C>T

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(5)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Uncertain significance

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_007294.4(BRCA1):c.*58C>T

Variation ID: 220816 Accession: VCV000220816.12

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 17q21.31 17: 43045620 (GRCh38) [ NCBI UCSC ] 17: 41197637 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Feb 2, 2016	Oct 8, 2024	Sep 23, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_007294.4:c.*58C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		3 prime UTR
NM_001407571.1:c.*58C>T
NM_001407581.1:c.*58C>T
NM_001407582.1:c.*58C>T
NM_001407583.1:c.*58C>T
NM_001407585.1:c.*58C>T
NM_001407587.1:c.*58C>T
NM_001407590.1:c.*58C>T
NM_001407591.1:c.*58C>T
NM_001407593.1:c.*58C>T
NM_001407594.1:c.*58C>T
NM_001407596.1:c.*58C>T
NM_001407597.1:c.*58C>T
NM_001407598.1:c.*58C>T
NM_001407602.1:c.*58C>T
NM_001407603.1:c.*58C>T
NM_001407605.1:c.*58C>T
NM_001407610.1:c.*58C>T
NM_001407611.1:c.*58C>T
NM_001407612.1:c.*58C>T
NM_001407613.1:c.*58C>T
NM_001407614.1:c.*58C>T
NM_001407615.1:c.*58C>T
NM_001407616.1:c.*58C>T
NM_001407617.1:c.*58C>T
NM_001407618.1:c.*58C>T
NM_001407619.1:c.*58C>T
NM_001407620.1:c.*58C>T
NM_001407621.1:c.*58C>T
NM_001407622.1:c.*58C>T
NM_001407623.1:c.*58C>T
NM_001407624.1:c.*58C>T
NM_001407625.1:c.*58C>T
NM_001407626.1:c.*58C>T
NM_001407627.1:c.*58C>T
NM_001407628.1:c.*58C>T
NM_001407629.1:c.*58C>T
NM_001407630.1:c.*58C>T
NM_001407631.1:c.*58C>T
NM_001407632.1:c.*58C>T
NM_001407633.1:c.*58C>T
NM_001407634.1:c.*58C>T
NM_001407635.1:c.*58C>T
NM_001407636.1:c.*58C>T
NM_001407637.1:c.*58C>T
NM_001407638.1:c.*58C>T
NM_001407639.1:c.*58C>T
NM_001407640.1:c.*58C>T
NM_001407641.1:c.*58C>T
NM_001407642.1:c.*58C>T
NM_001407644.1:c.*58C>T
NM_001407645.1:c.*58C>T
NM_001407646.1:c.*58C>T
NM_001407647.1:c.*58C>T
NM_001407648.1:c.*58C>T
NM_001407649.1:c.*58C>T
NM_001407652.1:c.*58C>T
NM_001407653.1:c.*58C>T
NM_001407654.1:c.*58C>T
NM_001407655.1:c.*58C>T
NM_001407656.1:c.*58C>T
NM_001407657.1:c.*58C>T
NM_001407658.1:c.*58C>T
NM_001407659.1:c.*58C>T
NM_001407660.1:c.*58C>T
NM_001407661.1:c.*58C>T
NM_001407662.1:c.*58C>T
NM_001407663.1:c.*58C>T
NM_001407664.1:c.*58C>T
NM_001407665.1:c.*58C>T
NM_001407666.1:c.*58C>T
NM_001407667.1:c.*58C>T
NM_001407668.1:c.*58C>T
NM_001407669.1:c.*58C>T
NM_001407670.1:c.*58C>T
NM_001407671.1:c.*58C>T
NM_001407672.1:c.*58C>T
NM_001407673.1:c.*58C>T
NM_001407674.1:c.*58C>T
NM_001407675.1:c.*58C>T
NM_001407676.1:c.*58C>T
NM_001407677.1:c.*58C>T
NM_001407678.1:c.*58C>T
NM_001407679.1:c.*58C>T
NM_001407680.1:c.*58C>T
NM_001407681.1:c.*58C>T
NM_001407682.1:c.*58C>T
NM_001407683.1:c.*58C>T
NM_001407684.1:c.*58C>T
NM_001407685.1:c.*58C>T
NM_001407686.1:c.*58C>T
NM_001407687.1:c.*58C>T
NM_001407688.1:c.*58C>T
NM_001407689.1:c.*58C>T
NM_001407690.1:c.*58C>T
NM_001407691.1:c.*58C>T
NM_001407692.1:c.*58C>T
NM_001407694.1:c.*58C>T
NM_001407695.1:c.*58C>T
NM_001407696.1:c.*58C>T
NM_001407697.1:c.*58C>T
NM_001407698.1:c.*58C>T
NM_001407724.1:c.*58C>T
NM_001407725.1:c.*58C>T
NM_001407726.1:c.*58C>T
NM_001407727.1:c.*58C>T
NM_001407728.1:c.*58C>T
NM_001407729.1:c.*58C>T
NM_001407730.1:c.*58C>T
NM_001407731.1:c.*58C>T
NM_001407732.1:c.*58C>T
NM_001407733.1:c.*58C>T
NM_001407734.1:c.*58C>T
NM_001407735.1:c.*58C>T
NM_001407736.1:c.*58C>T
NM_001407737.1:c.*58C>T
NM_001407738.1:c.*58C>T
NM_001407739.1:c.*58C>T
NM_001407740.1:c.*58C>T
NM_001407741.1:c.*58C>T
NM_001407742.1:c.*58C>T
NM_001407743.1:c.*58C>T
NM_001407744.1:c.*58C>T
NM_001407745.1:c.*58C>T
NM_001407746.1:c.*58C>T
NM_001407747.1:c.*58C>T
NM_001407748.1:c.*58C>T
NM_001407749.1:c.*58C>T
NM_001407750.1:c.*58C>T
NM_001407751.1:c.*58C>T
NM_001407752.1:c.*58C>T
NM_001407838.1:c.*58C>T
NM_001407839.1:c.*58C>T
NM_001407841.1:c.*58C>T
NM_001407842.1:c.*58C>T
NM_001407843.1:c.*58C>T
NM_001407844.1:c.*58C>T
NM_001407845.1:c.*58C>T
NM_001407846.1:c.*58C>T
NM_001407847.1:c.*58C>T
NM_001407848.1:c.*58C>T
NM_001407849.1:c.*58C>T
NM_001407850.1:c.*58C>T
NM_001407851.1:c.*58C>T
NM_001407852.1:c.*58C>T
NM_001407853.1:c.*58C>T
NM_001407854.1:c.*164C>T
NM_001407858.1:c.*164C>T
NM_001407859.1:c.*164C>T
NM_001407860.1:c.*164C>T
NM_001407861.1:c.*164C>T
NM_001407862.1:c.*58C>T
NM_001407863.1:c.*58C>T
NM_001407874.1:c.*58C>T
NM_001407875.1:c.*58C>T
NM_001407879.1:c.*58C>T
NM_001407881.1:c.*58C>T
NM_001407882.1:c.*58C>T
NM_001407884.1:c.*58C>T
NM_001407885.1:c.*58C>T
NM_001407886.1:c.*58C>T
NM_001407887.1:c.*58C>T
NM_001407889.1:c.*58C>T
NM_001407894.1:c.*58C>T
NM_001407895.1:c.*58C>T
NM_001407896.1:c.*58C>T
NM_001407897.1:c.*58C>T
NM_001407898.1:c.*58C>T
NM_001407899.1:c.*58C>T
NM_001407900.1:c.*58C>T
NM_001407902.1:c.*58C>T
NM_001407904.1:c.*58C>T
NM_001407906.1:c.*58C>T
NM_001407907.1:c.*58C>T
NM_001407908.1:c.*58C>T
NM_001407909.1:c.*58C>T
NM_001407910.1:c.*58C>T
NM_001407915.1:c.*58C>T
NM_001407916.1:c.*58C>T
NM_001407917.1:c.*58C>T
NM_001407918.1:c.*58C>T
NM_001407919.1:c.*58C>T
NM_001407920.1:c.*58C>T
NM_001407921.1:c.*58C>T
NM_001407922.1:c.*58C>T
NM_001407923.1:c.*58C>T
NM_001407924.1:c.*58C>T
NM_001407925.1:c.*58C>T
NM_001407926.1:c.*58C>T
NM_001407927.1:c.*58C>T
NM_001407928.1:c.*58C>T
NM_001407929.1:c.*58C>T
NM_001407930.1:c.*58C>T
NM_001407931.1:c.*58C>T
NM_001407932.1:c.*58C>T
NM_001407933.1:c.*58C>T
NM_001407934.1:c.*58C>T
NM_001407935.1:c.*58C>T
NM_001407936.1:c.*58C>T
NM_001407937.1:c.*164C>T
NM_001407938.1:c.*164C>T
NM_001407939.1:c.*164C>T
NM_001407940.1:c.*164C>T
NM_001407941.1:c.*164C>T
NM_001407942.1:c.*164C>T
NM_001407943.1:c.*164C>T
NM_001407944.1:c.*164C>T
NM_001407945.1:c.*164C>T
NM_001407946.1:c.*58C>T
NM_001407947.1:c.*58C>T
NM_001407948.1:c.*58C>T
NM_001407949.1:c.*58C>T
NM_001407950.1:c.*58C>T
NM_001407951.1:c.*58C>T
NM_001407952.1:c.*58C>T
NM_001407953.1:c.*58C>T
NM_001407954.1:c.*58C>T
NM_001407955.1:c.*58C>T
NM_001407956.1:c.*58C>T
NM_001407957.1:c.*58C>T
NM_001407958.1:c.*58C>T
NM_001407959.1:c.*58C>T
NM_001407960.1:c.*58C>T
NM_001407962.1:c.*58C>T
NM_001407963.1:c.*58C>T
NM_001407964.1:c.*58C>T
NM_001407965.1:c.*58C>T
NM_001407966.1:c.*58C>T
NM_001407967.1:c.*58C>T
NM_001407968.1:c.*58C>T
NM_001407969.1:c.*58C>T
NM_001407970.1:c.*58C>T
NM_001407971.1:c.*58C>T
NM_001407972.1:c.*58C>T
NM_001407973.1:c.*58C>T
NM_001407974.1:c.*58C>T
NM_001407975.1:c.*58C>T
NM_001407976.1:c.*58C>T
NM_001407977.1:c.*58C>T
NM_001407978.1:c.*58C>T
NM_001407979.1:c.*58C>T
NM_001407980.1:c.*58C>T
NM_001407981.1:c.*58C>T
NM_001407982.1:c.*58C>T
NM_001407983.1:c.*58C>T
NM_001407984.1:c.*58C>T
NM_001407985.1:c.*58C>T
NM_001407986.1:c.*58C>T
NM_001407990.1:c.*58C>T
NM_001407991.1:c.*58C>T
NM_001407992.1:c.*58C>T
NM_001407993.1:c.*58C>T
NM_001408392.1:c.*58C>T
NM_001408396.1:c.*58C>T
NM_001408397.1:c.*58C>T
NM_001408398.1:c.*58C>T
NM_001408399.1:c.*58C>T
NM_001408400.1:c.*58C>T
NM_001408401.1:c.*58C>T
NM_001408402.1:c.*58C>T
NM_001408403.1:c.*58C>T
NM_001408404.1:c.*58C>T
NM_001408406.1:c.*58C>T
NM_001408407.1:c.*58C>T
NM_001408408.1:c.*58C>T
NM_001408409.1:c.*58C>T
NM_001408410.1:c.*58C>T
NM_001408411.1:c.*58C>T
NM_001408412.1:c.*58C>T
NM_001408413.1:c.*58C>T
NM_001408414.1:c.*58C>T
NM_001408415.1:c.*58C>T
NM_001408416.1:c.*58C>T
NM_001408418.1:c.*58C>T
NM_001408419.1:c.*58C>T
NM_001408420.1:c.*58C>T
NM_001408421.1:c.*58C>T
NM_001408422.1:c.*58C>T
NM_001408423.1:c.*58C>T
NM_001408424.1:c.*58C>T
NM_001408425.1:c.*58C>T
NM_001408426.1:c.*58C>T
NM_001408427.1:c.*58C>T
NM_001408428.1:c.*58C>T
NM_001408429.1:c.*58C>T
NM_001408430.1:c.*58C>T
NM_001408431.1:c.*58C>T
NM_001408432.1:c.*58C>T
NM_001408433.1:c.*58C>T
NM_001408434.1:c.*58C>T
NM_001408435.1:c.*58C>T
NM_001408436.1:c.*58C>T
NM_001408437.1:c.*58C>T
NM_001408438.1:c.*58C>T
NM_001408439.1:c.*58C>T
NM_001408440.1:c.*58C>T
NM_001408441.1:c.*58C>T
NM_001408442.1:c.*58C>T
NM_001408443.1:c.*58C>T
NM_001408444.1:c.*58C>T
NM_001408445.1:c.*58C>T
NM_001408446.1:c.*58C>T
NM_001408447.1:c.*58C>T
NM_001408448.1:c.*58C>T
NM_001408450.1:c.*58C>T
NM_001408451.1:c.*58C>T
NM_001408452.1:c.*58C>T
NM_001408453.1:c.*58C>T
NM_001408454.1:c.*58C>T
NM_001408455.1:c.*58C>T
NM_001408456.1:c.*58C>T
NM_001408457.1:c.*58C>T
NM_001408458.1:c.*58C>T
NM_001408459.1:c.*58C>T
NM_001408460.1:c.*58C>T
NM_001408461.1:c.*58C>T
NM_001408462.1:c.*58C>T
NM_001408463.1:c.*58C>T
NM_001408464.1:c.*58C>T
NM_001408465.1:c.*58C>T
NM_001408466.1:c.*58C>T
NM_001408467.1:c.*58C>T
NM_001408468.1:c.*58C>T
NM_001408469.1:c.*58C>T
NM_001408470.1:c.*58C>T
NM_001408472.1:c.*164C>T
NM_001408473.1:c.*164C>T
NM_001408474.1:c.*58C>T
NM_001408475.1:c.*58C>T
NM_001408476.1:c.*58C>T
NM_001408478.1:c.*58C>T
NM_001408479.1:c.*58C>T
NM_001408480.1:c.*58C>T
NM_001408481.1:c.*58C>T
NM_001408482.1:c.*58C>T
NM_001408483.1:c.*58C>T
NM_001408484.1:c.*58C>T
NM_001408485.1:c.*58C>T
NM_001408489.1:c.*58C>T
NM_001408490.1:c.*58C>T
NM_001408491.1:c.*58C>T
NM_001408492.1:c.*58C>T
NM_001408493.1:c.*58C>T
NM_001408494.1:c.*58C>T
NM_001408495.1:c.*58C>T
NM_001408496.1:c.*58C>T
NM_001408497.1:c.*58C>T
NM_001408498.1:c.*58C>T
NM_001408499.1:c.*58C>T
NM_001408500.1:c.*58C>T
NM_001408501.1:c.*58C>T
NM_001408502.1:c.*58C>T
NM_001408503.1:c.*58C>T
NM_001408504.1:c.*58C>T
NM_001408505.1:c.*58C>T
NM_001408506.1:c.*58C>T
NM_001408507.1:c.*58C>T
NM_001408508.1:c.*58C>T
NM_001408509.1:c.*58C>T
NM_001408510.1:c.*58C>T
NM_001408511.1:c.*58C>T
NM_001408512.1:c.*58C>T
NM_001408513.1:c.*58C>T
NM_001408514.1:c.*58C>T
NM_007297.4:c.*58C>T		3 prime UTR
NM_007298.4:c.*58C>T
NM_007299.4:c.*164C>T		3 prime UTR
NM_007300.4:c.*58C>T		3 prime UTR
NM_007304.2:c.*58C>T
NR_027676.2:n.5827C>T		non-coding transcript variant
NC_000017.11:g.43045620G>A
NC_000017.10:g.41197637G>A
NG_005905.2:g.172364C>T
LRG_292:g.172364C>T
LRG_292t1:c.*58C>T

... more HGVS ... less HGVS

Protein change

Other names

Canonical SPDI

NC_000017.11:43045619:G:A

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

0.00060 (A)

Allele frequency Help The frequency of the allele represented by this VCV record.

Exome Aggregation Consortium (ExAC) 0.00002

Trans-Omics for Precision Medicine (TOPMed) 0.00002

1000 Genomes Project 30x 0.00047

1000 Genomes Project 0.00060

Links

ClinGen: CA056475 dbSNP: rs137892861 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
BRCA1		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	13044	14850

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Hereditary breast ovarian cancer syndrome	Uncertain significance (1)	criteria provided, single submitter	Oct 28, 2015	RCV000204618.5
Breast-ovarian cancer, familial, susceptibility to, 1	Uncertain significance (3)	criteria provided, multiple submitters, no conflicts	May 28, 2019	RCV000989862.7
not provided	Uncertain significance (1)	criteria provided, single submitter	Sep 23, 2024	RCV002508198.2

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Uncertain significance (Oct 28, 2015)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Hereditary breast ovarian cancer syndrome Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000261677.2 First in ClinVar: Feb 02, 2016 Last updated: Feb 02, 2016
Uncertain significance (Sep 23, 2024)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV002818014.2 First in ClinVar: Jan 07, 2023 Last updated: Oct 08, 2024	Comment: Not observed at significant frequency in large population cohorts (gnomAD); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Located … (more) Not observed at significant frequency in large population cohorts (gnomAD); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Located in a regulatory region; in the absence of functional studies, the actual effect of this sequence change is unknown; Observed in an individual with breast cancer and not observed among controls (PMID: 22753153); This variant is associated with the following publications: (PMID: 26332594, Brewster[Abstract]2012, 22753153) (less)
Uncertain significance (May 28, 2019)	criteria provided, single submitter (Mendelics Assertion Criteria 2017) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 1 Affected status: unknown Allele origin: unknown	Mendelics Accession: SCV001140460.1 First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020
Uncertain significance (Apr 28, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 1 Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV001284847.1 First in ClinVar: May 31, 2020 Last updated: May 31, 2020	Publications: PubMed (2) PubMed: 22753153‚ 26332594 Comment: This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more) This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
Uncertain significance (Mar 02, 2020)	no assertion criteria provided Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 1 Affected status: yes Allele origin: germline	BRCAlab, Lund University Accession: SCV004243899.1 First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024

Comment:

Not observed at significant frequency in large population cohorts (gnomAD); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Located in a regulatory region; in the absence of functional studies, the actual effect of this sequence change is unknown; Observed in an individual with breast cancer and not observed among controls (PMID: 22753153); This variant is associated with the following publications: (PMID: 26332594, Brewster[Abstract]2012, 22753153)

Comment:

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.	Olfson E	PloS one	2015	PMID: 26332594
Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.	Brewster BL	Human mutation	2012	PMID: 22753153

Text-mined citations for rs137892861 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2024

ClinVar Genomic variation as it relates to human health

NM_007294.4(BRCA1):c.*58C>T

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs137892861 ...