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NM_000051.4(ATM):c.8041G>A (p.Val2681Met) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 17, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000564723.10

Allele description [Variation Report for NM_000051.4(ATM):c.8041G>A (p.Val2681Met)]

NM_000051.4(ATM):c.8041G>A (p.Val2681Met)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.8041G>A (p.Val2681Met)
HGVS:
  • NC_000011.10:g.108334999G>A
  • NG_009830.1:g.117168G>A
  • NG_054724.1:g.139834C>T
  • NM_000051.4:c.8041G>AMANE SELECT
  • NM_001330368.2:c.641-25928C>T
  • NM_001351110.2:c.*38+221C>T
  • NM_001351834.2:c.8041G>A
  • NP_000042.3:p.Val2681Met
  • NP_000042.3:p.Val2681Met
  • NP_001338763.1:p.Val2681Met
  • LRG_135t1:c.8041G>A
  • LRG_135:g.117168G>A
  • LRG_135p1:p.Val2681Met
  • NC_000011.9:g.108205726G>A
  • NM_000051.3:c.8041G>A
Protein change:
V2681M
Links:
dbSNP: rs1064795034
NCBI 1000 Genomes Browser:
rs1064795034
Molecular consequence:
  • NM_001330368.2:c.641-25928C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+221C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.8041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.8041G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000660598Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Mar 17, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000660598.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.V2681M variant (also known as c.8041G>A), located in coding exon 54 of the ATM gene, results from a G to A substitution at nucleotide position 8041. The valine at codon 2681 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024