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NM_000057.4(BLM):c.2984A>T (p.Tyr995Phe) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 10, 2022
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:
RCV003169828.2

Allele description [Variation Report for NM_000057.4(BLM):c.2984A>T (p.Tyr995Phe)]

NM_000057.4(BLM):c.2984A>T (p.Tyr995Phe)

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.2984A>T (p.Tyr995Phe)
HGVS:
  • NC_000015.10:g.90790809A>T
  • NG_007272.1:g.78438A>T
  • NM_000057.2:c.2984A>T
  • NM_000057.4:c.2984A>TMANE SELECT
  • NM_001287246.2:c.2984A>T
  • NM_001287247.2:c.2984A>T
  • NM_001287248.2:c.1859A>T
  • NP_000048.1:p.Tyr995Phe
  • NP_001274175.1:p.Tyr995Phe
  • NP_001274176.1:p.Tyr995Phe
  • NP_001274177.1:p.Tyr620Phe
  • LRG_20t1:c.2984A>T
  • LRG_20:g.78438A>T
  • NC_000015.9:g.91334039A>T
Protein change:
Y620F
Links:
dbSNP: rs779755994
NCBI 1000 Genomes Browser:
rs779755994
Molecular consequence:
  • NM_000057.4:c.2984A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287246.2:c.2984A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287247.2:c.2984A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287248.2:c.1859A>T - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003892315Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 10, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003892315.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.Y995F variant (also known as c.2984A>T), located in coding exon 14 of the BLM gene, results from an A to T substitution at nucleotide position 2984. The tyrosine at codon 995 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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