VCV000009512.2 - ClinVar

NM_138761.4(BAX):c.121del (p.Glu41fs)

Germline

Classification

no assertion criteria provided. Learn more about how ClinVar calculates review status.

Pathogenic
Pathogenic (1)

This classification is based on the single submission received

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.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_138761.4(BAX):c.121del (p.Glu41fs)

Variation ID: 9512 Accession: VCV000009512.2

Type and length

Deletion, 1 bp

Location

Cytogenetic: 19q13.33 19: 48955714 (GRCh38) [ NCBI UCSC ] 19: 49458971 (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	Dec 9, 2013	Sep 3, 2023	Feb 14, 1997

HGVS

Nucleotide	Protein	Molecular consequence
NM_138761.4:c.121del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_620116.1:p.Glu41fs	frameshift
NM_001291428.2:c.121del	NP_001278357.1:p.Glu41fs	frameshift
NM_001291429.2:c.10del	NP_001278358.1:p.Glu4fs	frameshift initiator codon variant
NM_001291430.2:c.-1-477del		intron variant
NM_001291431.2:c.-1-477del		intron variant
NM_004324.4:c.121del	NP_004315.1:p.Glu41fs	frameshift
NM_138763.4:c.86+122del		intron variant
NM_138764.5:c.121del	NP_620119.2:p.Glu41fs	frameshift
NR_027882.2:n.175del		non-coding transcript variant
NC_000019.10:g.48955721del
NC_000019.9:g.49458978del
NG_012191.1:g.5862del

... more HGVS ... less HGVS

Protein change

E4fs, E41fs

Other names

Canonical SPDI

NC_000019.10:48955713:GGGGGGGG:GGGGGGG

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

OMIM: 600040.0002 dbSNP: rs398122840 ClinGen: CA250582 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.
BAX		-	-	GRCh38 GRCh37	53	64

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.
Carcinoma of colon	Pathogenic (1)	no assertion criteria provided	Feb 14, 1997	RCV000010120.5

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.	Expand all rows Collapse all rows 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.
Pathogenic (Feb 14, 1997) C Contributing to aggregate classification	no assertion criteria provided	COLORECTAL CANCER, SOMATIC	OMIM Accession: SCV000030341.3 First in ClinVar: Apr 04, 2013 Last updated: Sep 03, 2023	Publications: PubMed (1) PubMed: 9020077 Observation: 1 Collection method: literature only Allele origin: somatic Affected status: not provided more Observation 1 Collection method: literature only Allele origin: somatic Affected status: not provided Comment on evidence: See 600040.0001 and Rampino et al. (1997).

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype.	Rampino N	Science (New York, N.Y.)	1997	PMID: 9020077

Text-mined citations for rs398122840 ...

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 May 30, 2026