U.S. flag

An official website of the United States government

NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) AND Bloom syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 1997
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:
RCV000005790.4

Allele description [Variation Report for NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe)]

NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe)

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.3107G>T (p.Cys1036Phe)
HGVS:
  • NC_000015.10:g.90794254G>T
  • NG_007272.1:g.81883G>T
  • NM_000057.4:c.3107G>TMANE SELECT
  • NM_001287246.2:c.3107G>T
  • NM_001287247.2:c.3107G>T
  • NM_001287248.2:c.1982G>T
  • NP_000048.1:p.Cys1036Phe
  • NP_001274175.1:p.Cys1036Phe
  • NP_001274176.1:p.Cys1036Phe
  • NP_001274177.1:p.Cys661Phe
  • LRG_20t1:c.3107G>T
  • LRG_20:g.81883G>T
  • LRG_20p1:p.Cys1036Phe
  • NC_000015.9:g.91337484G>T
  • P54132:p.Cys1036Phe
Protein change:
C1036F; CYS1036PHE
Links:
UniProtKB: P54132#VAR_009140; OMIM: 604610.0004; dbSNP: rs137853153
NCBI 1000 Genomes Browser:
rs137853153
Molecular consequence:
  • NM_000057.4:c.3107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287246.2:c.3107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287247.2:c.3107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287248.2:c.1982G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bloom syndrome (BLM)
Synonyms:
Bloom-Torre-Machacek syndrome; Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
Identifiers:
MONDO: MONDO:0008876; MedGen: C0005859; Orphanet: 125; OMIM: 210900

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
SCV000025972OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 1997) 		unknownliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.

Foucault F, Vaury C, Barakat A, Thibout D, Planchon P, Jaulin C, Praz F, Amor-Guéret M.

Hum Mol Genet. 1997 Sep;6(9):1427-34.

PubMed [citation]
PMID:
9285778

Details of each submission

From OMIM, SCV000025972.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with Bloom syndrome (BLM; 210900), Foucault et al. (1997) identified compound heterozygosity for a 3181G-T transversion in the RECQL3 gene, resulting in a cys1036-to-phe (C1036F) substitution in the C-terminal region of the peptide, and an unidentified mutation affecting expression of the RECQL3 gene. The patient was initially believed to be homozygous for the C1036F mutation, but SSCP analysis, direct sequencing of RT-PCR products, and EcoRI digestion using a restriction site created by the mutation showed that the mutation was not present in low SCE cells from the patient. No EcoRI digestion was observed on paternal PCR products. Partial EcoRI digestion was seen with PCR products from maternal and patient DNA and from high- and low-SCE cells from the patient, and direct sequencing confirmed the presence of both a wildtype and mutated sequence at nucleotide 3181 in the high- and low-SCE cell lines, indicating heterozygosity for the mutation. Foucault et al. (1997) concluded that somatic intragenic recombination resulted in cells that had an untranscribed allele carrying the 2 parental RECQL3 mutations and a wildtype allele which allowed reversion to the low-SCE phenotype.

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

Last Updated: Jul 29, 2023