U.S. flag

An official website of the United States government

NM_000057.4(BLM):c.572G>T (p.Arg191Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 2, 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:
RCV001024460.3

Allele description [Variation Report for NM_000057.4(BLM):c.572G>T (p.Arg191Ile)]

NM_000057.4(BLM):c.572G>T (p.Arg191Ile)

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.572G>T (p.Arg191Ile)
HGVS:
  • NC_000015.10:g.90749840G>T
  • NG_007272.1:g.37469G>T
  • NM_000057.4:c.572G>TMANE SELECT
  • NM_001287246.2:c.572G>T
  • NM_001287247.2:c.572G>T
  • NM_001287248.2:c.-720G>T
  • NP_000048.1:p.Arg191Ile
  • NP_001274175.1:p.Arg191Ile
  • NP_001274176.1:p.Arg191Ile
  • LRG_20t1:c.572G>T
  • LRG_20:g.37469G>T
  • NC_000015.9:g.91293070G>T
  • NM_000057.2:c.572G>T
  • NM_000057.3:c.572G>T
Protein change:
R191I
Links:
dbSNP: rs569086568
NCBI 1000 Genomes Browser:
rs569086568
Molecular consequence:
  • NM_001287248.2:c.-720G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000057.4:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287246.2:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287247.2:c.572G>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001186479Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Dec 2, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001186479.4

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

Description

The p.R191I variant (also known as c.572G>T), located in coding exon 2 of the BLM gene, results from a G to T substitution at nucleotide position 572. The arginine at codon 191 is replaced by isoleucine, an amino acid with similar properties. 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: Mar 16, 2024