VCV001221496.12 - ClinVar

NM_014804.3(KIAA0753):c.507T>C (p.Ser169=)

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.

(6)

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.

Benign

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_014804.3(KIAA0753):c.507T>C (p.Ser169=)

Variation ID: 1221496 Accession: VCV001221496.12

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 17p13.1 17: 6628328 (GRCh38) [ NCBI UCSC ] 17: 6531648 (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	Sep 8, 2021	Sep 29, 2024	Jan 31, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_014804.3:c.507T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_055619.2:p.Ser169=	synonymous
NM_001351225.2:c.-728T>C		5 prime UTR
NR_147086.2:n.650T>C		non-coding transcript variant
NR_147087.2:n.650T>C		non-coding transcript variant
NR_147088.2:n.650T>C		non-coding transcript variant
NC_000017.11:g.6628328A>G
NC_000017.10:g.6531648A>G
NG_054885.1:g.17600T>C

... more HGVS ... less HGVS

Protein change

Other names

Canonical SPDI

NC_000017.11:6628327:A:G

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.

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

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.65431

Trans-Omics for Precision Medicine (TOPMed) 0.66768

1000 Genomes Project 0.69708

1000 Genomes Project 30x 0.69847

Links

dbSNP: rs2072149 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.
KIAA0753		-	-	GRCh38 GRCh37	422	447

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.
not provided	Benign (3)	criteria provided, multiple submitters, no conflicts	Jan 31, 2024	RCV001597787.9
Orofaciodigital syndrome XV	Benign (1)	criteria provided, single submitter	Aug 19, 2021	RCV001730857.2
Joubert syndrome 38	Benign (1)	criteria provided, single submitter	Aug 19, 2021	RCV001730858.2
Short-rib thoracic dysplasia 21 without polydactyly	Benign (1)	criteria provided, single submitter	Aug 19, 2021	RCV001730859.2

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.
Benign (Dec 05, 2019)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV001831298.1 First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021
Benign (Aug 19, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Short-rib thoracic dysplasia 21 without polydactyly Affected status: no Allele origin: germline	Genome-Nilou Lab Accession: SCV001981000.1 First in ClinVar: Oct 21, 2021 Last updated: Oct 21, 2021
Benign (Aug 19, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Joubert syndrome 38 Affected status: no Allele origin: germline	Genome-Nilou Lab Accession: SCV001980998.1 First in ClinVar: Oct 21, 2021 Last updated: Oct 21, 2021
Benign (Aug 19, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Orofaciodigital syndrome XV Affected status: no Allele origin: germline	Genome-Nilou Lab Accession: SCV001980999.1 First in ClinVar: Oct 21, 2021 Last updated: Oct 21, 2021
Benign (Jan 31, 2024)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV002402534.3 First in ClinVar: Apr 08, 2022 Last updated: Feb 20, 2024
Benign (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: not provided	not provided (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Breakthrough Genomics, Breakthrough Genomics Accession: SCV005255411.1 First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024

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.

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs2072149 ...

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 Sep 29, 2024

ClinVar Genomic variation as it relates to human health

NM_014804.3(KIAA0753):c.507T>C (p.Ser169=)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs2072149 ...