VCV003236842.1 - ClinVar

NM_005157.6(ABL1):c.1298C>T (p.Ala433Val)

Germline

No data submitted for germline classification

Somatic

Clinical impact

The aggregate somatic clinical impact for this variant for one or more tumor types, using the AMP/ASCO/CAP terminology. 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 somatic clinical impact 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.

Tier III Unknown for Chronic myelogenous leukemia, BCR-ABL1 positive

criteria provided, single submitter

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_005157.6(ABL1):c.1298C>T (p.Ala433Val)

Variation ID: 3236842 Accession: VCV003236842.1

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 9q34.12 9: 130878442 (GRCh38) [ NCBI UCSC ] 9: 133753829 (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.
Somatic - Clinical impact	Jun 2, 2024	Jun 2, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_005157.6:c.1298C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_005148.2:p.Ala433Val	missense
NM_007313.3:c.1355C>T	NP_009297.2:p.Ala452Val	missense
NC_000009.12:g.130878442C>T
NC_000009.11:g.133753829C>T
NG_012034.1:g.169562C>T
LRG_769:g.169562C>T
LRG_769t1:c.1298C>T	LRG_769p1:p.Ala433Val
LRG_769t2:c.1355C>T	LRG_769p2:p.Ala452Val

... more HGVS ... less HGVS

Protein change

A433V, A452V

Other names

Canonical SPDI

NC_000009.12:130878441:C:T

Functional
consequence

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

Global minor allele
frequency (GMAF)

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

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.
ABL1		-	-	GRCh38 GRCh37	572	637

Conditions - Somatic

Tumor type Help The tumor type for this variant-condition (RCV) record in ClinVar.	Clinical impact (# of submissions) Help The aggregate somatic clinical impact for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to the aggregate somatic clinical impact is shown in parentheses. The corresponding review status for the RCV record is indicated by stars. Read our rules for calculating the review status.	Oncogenicity Help The aggregate oncogenicity classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to the aggregate oncogenicity classification is shown in parentheses. The corresponding review status for the RCV record is indicated by stars. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the tumor type.	Variation/condition record Help The most recent date that a submitter evaluated this variant for the tumor type.
Chronic myelogenous leukemia, BCR-ABL1 positive	Tier III Unknown (1) criteria provided, single submitter		-	RCV004556971.1

Submissions - Somatic

Clinical impact Help The submitted somatic clinical impact 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)	Tumor type Help The tumor type 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 somatic clinical impact, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.

Tier III Unknown

(-)

(AMP/ASCO/CAP Guidelines, 2017)

Method: clinical testing

Chronic myelogenous leukemia, BCR-ABL1 positive

Affected status: unknown

Allele origin: somatic

Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology

Accession: SCV005045676.1
First In ClinVar: Jun 02, 2024
Last updated: Jun 02, 2024

Citations for somatic classification of this variant

There are no citations for somatic 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 Jun 02, 2024

ClinVar Genomic variation as it relates to human health

NM_005157.6(ABL1):c.1298C>T (p.Ala433Val)

Variant Details

Genes

Conditions - Somatic

Submissions - Somatic

Citations for somatic classification of this variant

Text-mined citations for this variant ...