NM_000057.4(BLM):c.2407-7del AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 10, 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:: RCV001821468.4

Allele description [Variation Report for NM_000057.4(BLM):c.2407-7del]

NM_000057.4(BLM):c.2407-7del

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.2407-7del

HGVS:

NC_000015.10:g.90769431del
NG_007272.1:g.57060del
NM_000057.4:c.2407-7delMANE SELECT
NM_001287246.2:c.2407-7del
NM_001287247.2:c.2407-7del
NM_001287248.2:c.1282-7del
LRG_20t1:c.2407-7del
LRG_20:g.57060del
NC_000015.9:g.91312660del
NC_000015.9:g.91312661del
NM_000057.2:c.2407-7delC
NM_000057.3:c.2407-7del
NM_000057.3:c.2407-7delC

Links:

dbSNP: rs769184675

NCBI 1000 Genomes Browser:

rs769184675

Molecular consequence:

NM_000057.4:c.2407-7del - intron variant - [Sequence Ontology: SO:0001627]
NM_001287246.2:c.2407-7del - intron variant - [Sequence Ontology: SO:0001627]
NM_001287247.2:c.2407-7del - intron variant - [Sequence Ontology: SO:0001627]
NM_001287248.2:c.1282-7del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002070157	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 10, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002070157

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 10, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002070157.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

DNA sequence analysis of the BLM gene demonstrated a sequence change in intron 11, c.2407-7del. This change does not appear to have been previously described in patients with BLM-related disorders and has been described in the gnomAD database in eight individuals (dbSNP rs749544427). In silico splice site prediction programs give conflicting results on the effect on splicing of this variant. The functional significance of this sequence change is not known at present and its contribution to a disease phenotype cannot definitively be determined.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2024

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