NM_000057.4(BLM):c.320dup (p.Leu107fs) AND Bloom syndrome

Clinical significance:Pathogenic (Last evaluated: Oct 29, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000477306.7

Allele description [Variation Report for NM_000057.4(BLM):c.320dup (p.Leu107fs)]

NM_000057.4(BLM):c.320dup (p.Leu107fs)

Gene:
BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_000057.4(BLM):c.320dup (p.Leu107fs)
HGVS:
  • NC_000015.10:g.90749588dup
  • NG_007272.1:g.37217dup
  • NM_000057.4:c.320dupMANE SELECT
  • NM_001287246.2:c.320dup
  • NM_001287247.2:c.320dup
  • NM_001287248.2:c.-972dup
  • NP_000048.1:p.Leu107fs
  • NP_001274175.1:p.Leu107fs
  • NP_001274176.1:p.Leu107fs
  • LRG_20:g.37217dup
  • NC_000015.9:g.91292816_91292817insT
  • NC_000015.9:g.91292818dup
  • NM_000057.3:c.320dupT
Protein change:
L107fs
Links:
dbSNP: rs781221411
NCBI 1000 Genomes Browser:
rs781221411
Molecular consequence:
  • NM_001287248.2:c.-972dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000057.4:c.320dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287246.2:c.320dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287247.2:c.320dup - frameshift variant - [Sequence Ontology: SO:0001589]

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; MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1
Identifiers:
MONDO: MONDO:0008876; MedGen: C0005859; Orphanet: 125; OMIM: 210900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000543335Invitaecriteria provided, single submitter
Pathogenic
(Oct 29, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot 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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000543335.7

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

Description

This sequence change creates a premature translational stop signal (p.Leu107Phefs*36) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs781221411, ExAC 0.01%). This variant has not been reported in the literature in individuals with BLM-related disease. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 27, 2021

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