NM_000057.4(BLM):c.98+1G>T AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely pathogenic (Last evaluated: Nov 30, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001019785.1

Allele description [Variation Report for NM_000057.4(BLM):c.98+1G>T]

NM_000057.4(BLM):c.98+1G>T

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.98+1G>T
HGVS:
  • NC_000015.10:g.90747491G>T
  • NG_007272.1:g.35120G>T
  • NM_000057.4:c.98+1G>TMANE SELECT
  • NM_001287246.2:c.98+1G>T
  • NM_001287247.2:c.98+1G>T
  • NM_001287248.2:c.-1194+1G>T
  • LRG_20t1:c.98+1G>T
  • LRG_20:g.35120G>T
  • NC_000015.9:g.91290721G>T
  • NM_000057.2:c.98+1G>T
  • NM_000057.3:c.98+1G>T
Links:
dbSNP: rs750293380
NCBI 1000 Genomes Browser:
rs750293380
Molecular consequence:
  • NM_000057.4:c.98+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001287246.2:c.98+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001287247.2:c.98+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001287248.2:c.-1194+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
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
SCV001181189Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Nov 30, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001181189.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

<p style="text-align: justify;">The c.98+1G>T intronic variant results from a G to T substitution one nucleotide after coding exon 1 of the BLM gene. This nucleotide position is highly conserved in available vertebrate species. This alteration has been reported in a compound heterozygous state with the Ashkenazi founder mutation (c.2207_2212delinsTAGATTC) in a child with Bloom syndrome (German J et al. Hum. Mutat. 2007 Aug;28(8):743-53). Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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

Last Updated: Jun 14, 2021

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