NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 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:: RCV001821228.4

Allele description [Variation Report for NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg)]

NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg)

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.3031G>A (p.Gly1011Arg)

HGVS:

NC_000015.10:g.90794178G>A
NG_007272.1:g.81807G>A
NM_000057.4:c.3031G>AMANE SELECT
NM_001287246.2:c.3031G>A
NM_001287247.2:c.3031G>A
NM_001287248.2:c.1906G>A
NP_000048.1:p.Gly1011Arg
NP_001274175.1:p.Gly1011Arg
NP_001274176.1:p.Gly1011Arg
NP_001274177.1:p.Gly636Arg
LRG_20t1:c.3031G>A
LRG_20:g.81807G>A
NC_000015.9:g.91337408G>A
NM_000057.2:c.3031G>A
NM_000057.3:c.3031G>A

Protein change:

G1011R

Links:

dbSNP: rs370073229

NCBI 1000 Genomes Browser:

rs370073229

Molecular consequence:

NM_000057.4:c.3031G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287246.2:c.3031G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287247.2:c.3031G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287248.2:c.1906G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002071806	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 17, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002071806

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 17, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002071806.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

DNA sequence analysis of the BLM gene demonstrated a sequence change, c.3031G>A, in exon 16 that results in an amino acid change, p.Gly1011Arg. This sequence change has been described in the gnomAD database with a frequency of 0.0055% in the East Asian subpopulation (dbSNP rs370073229). The p.Gly1011Arg change affects a moderately conserved amino acid residue located in a domain of the BLM protein that is known to be functional. The p.Gly1011Arg substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This sequence change does not appear to have been previously described in individuals with BLM-related disorders. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Gly1011Arg change remains unknown at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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