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NM_000057.4(BLM):c.3938A>C (p.Glu1313Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 2020
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:
RCV002375296.2

Allele description [Variation Report for NM_000057.4(BLM):c.3938A>C (p.Glu1313Ala)]

NM_000057.4(BLM):c.3938A>C (p.Glu1313Ala)

Gene:
BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_000057.4(BLM):c.3938A>C (p.Glu1313Ala)
HGVS:
  • NC_000015.10:g.90811268A>C
  • NG_007272.1:g.98897A>C
  • NM_000057.4:c.3938A>CMANE SELECT
  • NM_001287246.2:c.3938A>C
  • NM_001287247.2:c.3545A>C
  • NM_001287248.2:c.2813A>C
  • NP_000048.1:p.Glu1313Ala
  • NP_001274175.1:p.Glu1313Ala
  • NP_001274176.1:p.Glu1182Ala
  • NP_001274177.1:p.Glu938Ala
  • LRG_20t1:c.3938A>C
  • LRG_20:g.98897A>C
  • NC_000015.9:g.91354498A>C
  • NM_000057.2:c.3938A>C
  • NM_000057.3:c.3938A>C
Protein change:
E1182A
Links:
dbSNP: rs754033839
NCBI 1000 Genomes Browser:
rs754033839
Molecular consequence:
  • NM_000057.4:c.3938A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287246.2:c.3938A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287247.2:c.3545A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287248.2:c.2813A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002624323Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 11, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Germline Mutations in Predisposition Genes in Pediatric Cancer.

Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, et al.

N Engl J Med. 2015 Dec 10;373(24):2336-2346. doi: 10.1056/NEJMoa1508054. Epub 2015 Nov 18.

PubMed [citation]
PMID:
26580448
PMCID:
PMC4734119

Details of each submission

From Ambry Genetics, SCV002624323.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.E1313A variant (also known as c.3938A>C), located in coding exon 20 of the BLM gene, results from an A to C substitution at nucleotide position 3938. The glutamic acid at codon 1313 is replaced by alanine, an amino acid with dissimilar properties. This variant has been reported in 1/1120 pediatric cancer patients who underwent whole genome sequencing and/or whole exome sequencing; this was diagnosed with melanoma (Zhang J et al. N Engl J Med, 2015 Dec;373:2336-2346). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024