NM_000057.4(BLM):c.2407dup (p.Trp803fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 18, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000598767.2

Allele description [Variation Report for NM_000057.4(BLM):c.2407dup (p.Trp803fs)]

NM_000057.4(BLM):c.2407dup (p.Trp803fs)

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.2407dup (p.Trp803fs)
HGVS:
  • NC_000015.10:g.90769438dup
  • NG_007272.1:g.57067dup
  • NM_000057.4:c.2407dupMANE SELECT
  • NM_001287246.2:c.2407dup
  • NM_001287247.2:c.2407dup
  • NM_001287248.2:c.1282dup
  • NP_000048.1:p.Trp803fs
  • NP_001274175.1:p.Trp803fs
  • NP_001274176.1:p.Trp803fs
  • NP_001274177.1:p.Trp428fs
  • LRG_20t1:c.2407dup
  • LRG_20:g.57067dup
  • NC_000015.9:g.91312668dup
  • NM_000057.2:c.2407dupT
  • NM_000057.3:c.2407dup
Protein change:
W428fs
Links:
dbSNP: rs367543012
NCBI 1000 Genomes Browser:
rs367543012
Molecular consequence:
  • NM_000057.4:c.2407dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287246.2:c.2407dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287247.2:c.2407dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287248.2:c.1282dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000225477EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Jul 14, 2014)
germlineclinical testing

Citation Link,

SCV000709964GeneDxcriteria provided, single submitter
Pathogenic
(Dec 18, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000225477.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000709964.1

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

Description

The c.2407dupT variant in the BLM gene has been previously reported previously in the heterozygous state in at least two individuals with Bloom syndrome. Information on a second variant in these individuals was not specified (German et al., 2007). This duplication causes a frameshift starting with codon Tryptophan 803, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Trp803LeufsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.2407dupT to be pathogenic.

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

Last Updated: Jun 14, 2021

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