NM_000057.4(BLM):c.3028del (p.Asp1010fs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Jul 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000574982.1

Allele description [Variation Report for NM_000057.4(BLM):c.3028del (p.Asp1010fs)]

NM_000057.4(BLM):c.3028del (p.Asp1010fs)

Gene:
BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
HGVS:
  • NC_000015.10:g.90794175del
  • NG_007272.1:g.81804del
  • NM_000057.4:c.3028delMANE SELECT
  • NM_001287246.2:c.3028del
  • NM_001287247.2:c.3028del
  • NM_001287248.2:c.1903del
  • NP_000048.1:p.Asp1010fs
  • NP_001274175.1:p.Asp1010fs
  • NP_001274176.1:p.Asp1010fs
  • NP_001274177.1:p.Asp635fs
  • LRG_20t1:c.3028del
  • LRG_20:g.81804del
  • NC_000015.9:g.91337405del
  • NM_000057.2:c.3028del
  • NM_000057.2:c.3028delG
  • NM_000057.3:c.3028del
  • NM_000057.3:c.3028delG
Protein change:
D1010fs
Links:
dbSNP: rs780379121
NCBI 1000 Genomes Browser:
rs780379121
Molecular consequence:
  • NM_000057.4:c.3028del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287246.2:c.3028del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287247.2:c.3028del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287248.2:c.1903del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000672986Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jul 14, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA.

Hum Mutat. 2007 Aug;28(8):743-53.

PubMed [citation]
PMID:
17407155

A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.

Perreault-Micale C, Davie J, Breton B, Hallam S, Greger V.

Mol Genet Genomic Med. 2015 Jul;3(4):363-73. doi: 10.1002/mgg3.148. Epub 2015 Apr 23.

PubMed [citation]
PMID:
26247052
PMCID:
PMC4521971

Details of each submission

From Ambry Genetics, SCV000672986.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The c.3028delG pathogenic mutation, located in coding exon 15 of the BLM gene, results from a deletion of one nucleotide at nucleotide position 3028, causing a translational frameshift with a predicted alternate stop codon (p.D1010Mfs*24). This alteration has been reported in three individuals with Bloom syndrome (German J et al. Hum. Mutat., 2007 Aug;28:743-53). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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