NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del) AND Bloom syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 24, 2022
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:: RCV000673753.6

Allele description [Variation Report for NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del)]

NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del)

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.483_491del (p.Asp161_Ser163del)

HGVS:

NC_000015.10:g.90749751_90749759del
NG_007272.1:g.37380_37388del
NM_000057.4:c.483_491delMANE SELECT
NM_001287246.2:c.483_491del
NM_001287247.2:c.483_491del
NM_001287248.2:c.-809_-801del
NP_000048.1:p.Asp161_Ser163del
NP_001274175.1:p.Asp161_Ser163del
NP_001274176.1:p.Asp161_Ser163del
LRG_20:g.37380_37388del
NC_000015.9:g.91292978_91292986del
NC_000015.9:g.91292981_91292989del
NM_000057.3:c.483_491del9

Links:

dbSNP: rs773427744

NCBI 1000 Genomes Browser:

rs773427744

Molecular consequence:

NM_001287248.2:c.-809_-801del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000057.4:c.483_491del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001287246.2:c.483_491del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001287247.2:c.483_491del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000798991	Counsyl	no assertion criteria provided	Uncertain significance (Apr 2, 2018)	unknown	clinical testing
SCV003510709	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 24, 2022)	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

SCV000798991

Counsyl

no assertion criteria provided

Uncertain significance
(Apr 2, 2018)

unknown

clinical testing

SCV003510709

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 24, 2022)

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Counsyl, SCV000798991.2

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

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

#	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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003510709.3

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

Description

This variant, c.483_491del, results in the deletion of 3 amino acid(s) of the BLM protein (p.Asp161_Ser163del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs773427744, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 557594). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Jul 5, 2025

ClinVar

Relating variation to medicine