NM_000057.4(BLM):c.3011_3012del (p.Leu1004fs) AND Bloom syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 21, 2020
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:
RCV001390289.7

Allele description [Variation Report for NM_000057.4(BLM):c.3011_3012del (p.Leu1004fs)]

NM_000057.4(BLM):c.3011_3012del (p.Leu1004fs)

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.3011_3012del (p.Leu1004fs)
HGVS:
  • NC_000015.10:g.90790836_90790837del
  • NG_007272.1:g.78465_78466del
  • NM_000057.4:c.3011_3012delMANE SELECT
  • NM_001287246.2:c.3011_3012del
  • NM_001287247.2:c.3011_3012del
  • NM_001287248.2:c.1886_1887del
  • NP_000048.1:p.Leu1004fs
  • NP_001274175.1:p.Leu1004fs
  • NP_001274176.1:p.Leu1004fs
  • NP_001274177.1:p.Leu629fs
  • LRG_20:g.78465_78466del
  • NC_000015.9:g.91334066_91334067del
Protein change:
L1004fs
Links:
dbSNP: rs2151184759
NCBI 1000 Genomes Browser:
rs2151184759
Molecular consequence:
  • NM_000057.4:c.3011_3012del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287246.2:c.3011_3012del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287247.2:c.3011_3012del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287248.2:c.1886_1887del - 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
Identifiers:
MONDO: MONDO:0008876; MedGen: C0005859; Orphanet: 125; OMIM: 210900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001591969Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 21, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

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

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS, Gunawardena S, Balcom JR, Pickart AM, Waltman LA, French AJ, McDonnell S, Riska SM, Fogarty ZC, Larson MC, Middha S, Eckloff BW, Asmann YW, Ferber MJ, Haile RW, Gallinger S, Clendenning M, Rosty C, Win AK, Buchanan DD, Hopper JL, Newcomb PA, et al.

Mol Genet Genomic Med. 2017 Sep;5(5):553-569. doi: 10.1002/mgg3.317.

PubMed [citation]
PMID:
28944238
PMCID:
PMC5606870
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001591969.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant has been observed in individual(s) with colorectal cancer (PMID: 28944238). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1004Hisfs*18) in the BLM gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Sep 29, 2024