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NM_000057.4(BLM):c.2991T>A (p.Asp997Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003151475.2

Allele description [Variation Report for NM_000057.4(BLM):c.2991T>A (p.Asp997Glu)]

NM_000057.4(BLM):c.2991T>A (p.Asp997Glu)

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.2991T>A (p.Asp997Glu)
HGVS:
  • NC_000015.10:g.90790816T>A
  • NG_007272.1:g.78445T>A
  • NM_000057.4:c.2991T>AMANE SELECT
  • NM_001287246.2:c.2991T>A
  • NM_001287247.2:c.2991T>A
  • NM_001287248.2:c.1866T>A
  • NP_000048.1:p.Asp997Glu
  • NP_000048.1:p.Asp997Glu
  • NP_001274175.1:p.Asp997Glu
  • NP_001274176.1:p.Asp997Glu
  • NP_001274177.1:p.Asp622Glu
  • LRG_20t1:c.2991T>A
  • LRG_20:g.78445T>A
  • LRG_20p1:p.Asp997Glu
  • NC_000015.9:g.91334046T>A
  • NM_000057.2:c.2991T>A
  • NM_000057.3:c.2991T>A
Protein change:
D622E
Molecular consequence:
  • NM_000057.4:c.2991T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287246.2:c.2991T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287247.2:c.2991T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287248.2:c.1866T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003839261Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Uncertain significance
(May 17, 2022) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839261.1

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

Description

DNA sequence analysis of the BLM gene demonstrated a sequence change, c.2991T>A, in exon 15 that results in an amino acid change, p.Asp997Glu. This sequence change does not appear to have been previously described in individuals with BLM-related disorders and has also not been described in population databases such as ExAC and gnomAD. The p.Asp997Glu change affects a highly conserved amino acid residue located in a domain of the BLM protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Asp997Glu substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Asp997Glu change remains unknown at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2023