NM_000057.4(BLM):c.443dup (p.Leu148fs) AND Bloom syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 11, 2015
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:: RCV000411717.2

Allele description [Variation Report for NM_000057.4(BLM):c.443dup (p.Leu148fs)]

NM_000057.4(BLM):c.443dup (p.Leu148fs)

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.443dup (p.Leu148fs)

HGVS:

NC_000015.10:g.90749711dup
NG_007272.1:g.37340dup
NM_000057.4:c.443dupMANE SELECT
NM_001287246.2:c.443dup
NM_001287247.2:c.443dup
NM_001287248.2:c.-849dup
NP_000048.1:p.Leu148fs
NP_001274175.1:p.Leu148fs
NP_001274176.1:p.Leu148fs
LRG_20t1:c.443dup
LRG_20:g.37340dup
NC_000015.9:g.91292941dup
NM_000057.2:c.443dupT

Protein change:

L148fs

Links:

dbSNP: rs1057516297

NCBI 1000 Genomes Browser:

rs1057516297

Molecular consequence:

NM_001287248.2:c.-849dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000057.4:c.443dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001287246.2:c.443dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001287247.2:c.443dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Bloom syndrome (BLM)
Synonyms:: Bloom-Torre-Machacek syndrome
Identifiers:: MONDO: MONDO:0008876; MedGen: C0005859; Orphanet: 125; OMIM: 210900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000485433	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Dec 11, 2015)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000485433

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Dec 11, 2015)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000485433.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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