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NM_000057.4(BLM):c.715G>A (p.Asp239Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 10, 2023
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:
RCV000570925.3

Allele description [Variation Report for NM_000057.4(BLM):c.715G>A (p.Asp239Asn)]

NM_000057.4(BLM):c.715G>A (p.Asp239Asn)

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.715G>A (p.Asp239Asn)
Other names:
p.D239N:GAT>AAT
HGVS:
  • NC_000015.10:g.90749983G>A
  • NG_007272.1:g.37612G>A
  • NM_000057.4:c.715G>AMANE SELECT
  • NM_001287246.2:c.715G>A
  • NM_001287247.2:c.715G>A
  • NM_001287248.2:c.-577G>A
  • NP_000048.1:p.Asp239Asn
  • NP_001274175.1:p.Asp239Asn
  • NP_001274176.1:p.Asp239Asn
  • LRG_20t1:c.715G>A
  • LRG_20:g.37612G>A
  • NC_000015.9:g.91293213G>A
  • NM_000057.2:c.715G>A
  • NM_000057.3:c.715G>A
Protein change:
D239N
Links:
dbSNP: rs200756519
NCBI 1000 Genomes Browser:
rs200756519
Molecular consequence:
  • NM_001287248.2:c.-577G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000057.4:c.715G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287246.2:c.715G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287247.2:c.715G>A - 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
SCV000672948Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Jan 10, 2023) 		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 variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]
PMID:
24728327
PMCID:
PMC3984285

Details of each submission

From Ambry Genetics, SCV000672948.5

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

Description

The p.D239N variant (also known as c.715G>A), located in coding exon 2 of the BLM gene, results from a G to A substitution at nucleotide position 715. The aspartic acid at codon 239 is replaced by asparagine, an amino acid with highly similar properties. This variant was identified in a cohort of 681 ancestrally diverse, healthy subjects (Bodian DL et al. PLoS ONE. 2014 Apr;9:e94554). This amino acid position is 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: Dec 24, 2023