VCV002584754.1 - ClinVar

NM_000546.6(TP53):c.722_724del (p.Ser241del)

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.

(1)

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.

Likely pathogenic

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000546.6(TP53):c.722_724del (p.Ser241del)

Variation ID: 2584754 Accession: VCV002584754.1

Type and length

Deletion, 3 bp

Location

Cytogenetic: 17p13.1 17: 7674239-7674241 (GRCh38) [ NCBI UCSC ] 17: 7577557-7577559 (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	Apr 20, 2024	Apr 20, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_000546.6:c.722_724del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000537.3:p.Ser241del	inframe deletion
NM_001126112.3:c.722_724del	NP_001119584.1:p.Ser241del	inframe deletion
NM_001126113.3:c.722_724del	NP_001119585.1:p.Ser241del	inframe deletion
NM_001126114.3:c.722_724del	NP_001119586.1:p.Ser241del	inframe deletion
NM_001126115.2:c.326_328del	NP_001119587.1:p.Ser109del	inframe deletion
NM_001126116.2:c.326_328del	NP_001119588.1:p.Ser109del	inframe deletion
NM_001126117.2:c.326_328del	NP_001119589.1:p.Ser109del	inframe deletion
NM_001126118.2:c.605_607del	NP_001119590.1:p.Ser202del	inframe deletion
NM_001276695.3:c.605_607del	NP_001263624.1:p.Ser202del	inframe deletion
NM_001276696.3:c.605_607del	NP_001263625.1:p.Ser202del	inframe deletion
NM_001276697.3:c.245_247del	NP_001263626.1:p.Ser82del	inframe deletion
NM_001276698.3:c.245_247del	NP_001263627.1:p.Ser82del	inframe deletion
NM_001276699.3:c.245_247del	NP_001263628.1:p.Ser82del	inframe deletion
NM_001276760.3:c.605_607del	NP_001263689.1:p.Ser202del	inframe deletion
NM_001276761.3:c.605_607del	NP_001263690.1:p.Ser202del	inframe deletion
NM_001407262.1:c.722_724del	NP_001394191.1:p.Ser241del	inframe deletion
NM_001407263.1:c.605_607del	NP_001394192.1:p.Ser202del	inframe deletion
NM_001407264.1:c.722_724del	NP_001394193.1:p.Ser241del	inframe deletion
NM_001407265.1:c.605_607del	NP_001394194.1:p.Ser202del	inframe deletion
NM_001407266.1:c.722_724del	NP_001394195.1:p.Ser241del	inframe deletion
NM_001407267.1:c.605_607del	NP_001394196.1:p.Ser202del	inframe deletion
NM_001407268.1:c.722_724del	NP_001394197.1:p.Ser241del	inframe deletion
NM_001407269.1:c.605_607del	NP_001394198.1:p.Ser202del	inframe deletion
NM_001407270.1:c.722_724del	NP_001394199.1:p.Ser241del	inframe deletion
NM_001407271.1:c.605_607del	NP_001394200.1:p.Ser202del	inframe deletion
NR_176326.1:n.751_753del		non-coding transcript variant
NC_000017.11:g.7674240_7674242del
NC_000017.10:g.7577558_7577560del
NG_017013.2:g.18310_18312del
LRG_321:g.18310_18312del
LRG_321t1:c.721_723del	LRG_321p1:p.Ser241del
LRG_321t2:c.721_723del	LRG_321:p.Ser241del
LRG_321t3:c.721_723del	LRG_321p3:p.Ser241del
LRG_321t4:c.721_723del	LRG_321p4:p.Ser241del
LRG_321t5:c.325_327del	LRG_321p5:p.Ser109del
LRG_321t6:c.325_327del	LRG_321p6:p.Ser109del
LRG_321t7:c.325_327del	LRG_321p7:p.Ser109del
LRG_321t8:c.604_606del	LRG_321p8:p.Ser202del

... more HGVS ... less HGVS

Protein change

S109del, S202del, S241del, S82del

Other names

Canonical SPDI

NC_000017.11:7674238:AGGA: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.

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

Links

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.
TP53		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	3367	3466

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.
Adrenal cortex carcinoma	Likely pathogenic (1)	no assertion criteria provided	-	RCV004011263.1

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.
Likely pathogenic (-)	no assertion criteria provided Method: clinical testing	Adrenocortical carcinoma Affected status: no Allele origin: somatic	Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University Accession: SCV004046838.1 First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 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 this variant ...

Record last updated Apr 20, 2024

ClinVar Genomic variation as it relates to human health

NM_000546.6(TP53):c.722_724del (p.Ser241del)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...