NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Oct 10, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV000115315.6

Allele description [Variation Report for NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)]

NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)

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.3991A>G (p.Arg1331Gly)

Other names:

p.R1331G:AGA>GGA

HGVS:

NC_000015.10:g.90811321A>G
NG_007272.1:g.98950A>G
NM_000057.4:c.3991A>GMANE SELECT
NM_001287246.2:c.3991A>G
NM_001287247.2:c.3598A>G
NM_001287248.2:c.2866A>G
NP_000048.1:p.Arg1331Gly
NP_001274175.1:p.Arg1331Gly
NP_001274176.1:p.Arg1200Gly
NP_001274177.1:p.Arg956Gly
LRG_20t1:c.3991A>G
LRG_20:g.98950A>G
NC_000015.9:g.91354551A>G
NM_000057.2:c.3991A>G
NM_000057.3:c.3991A>G

Protein change:

R1200G

Links:

dbSNP: rs150631940

NCBI 1000 Genomes Browser:

rs150631940

Molecular consequence:

NM_000057.4:c.3991A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001287246.2:c.3991A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001287247.2:c.3598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001287248.2:c.2866A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000149224	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jan 26, 2022)	germline	clinical testing	Citation Link,
SCV004222495	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Oct 10, 2022)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23129629, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000149224

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jan 26, 2022)

germline

clinical testing

Citation Link,

SCV004222495

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Oct 10, 2022)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.

Mirzaei H, Schmidt KH.

Proc Natl Acad Sci U S A. 2012 Nov 20;109(47):19357-62. doi: 10.1073/pnas.1210304109. Epub 2012 Nov 5.

PubMed [citation]

PMID:: 23129629
PMCID:: PMC3511070

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From GeneDx, SCV000149224.14

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Published functional studies demonstrate no damaging effect: behaves similarly to wild-type in response to a DNA-damaging agent (Mirzaei 2012); This variant is associated with the following publications: (PMID: 23129629)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004222495.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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