NM_000057.4(BLM):c.4060_4062del (p.Gly1354del) AND Bloom syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 11, 2023
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:: RCV002019668.7

Allele description

NM_000057.4(BLM):c.4060_4062del (p.Gly1354del)

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.4060_4062del (p.Gly1354del)

HGVS:

NC_000015.10:g.90811390_90811392del
NG_007272.1:g.99019_99021del
NM_000057.4:c.4060_4062delMANE SELECT
NM_001287246.2:c.4060_4062del
NM_001287247.2:c.3667_3669del
NM_001287248.2:c.2935_2937del
NP_000048.1:p.Gly1354del
NP_001274175.1:p.Gly1354del
NP_001274176.1:p.Gly1223del
NP_001274177.1:p.Gly979del
LRG_20t1:c.4060_4062del
LRG_20:g.99019_99021del
NC_000015.9:g.91354618_91354620del
NC_000015.9:g.91354620_91354622del
NM_000057.2:c.4060_4062delGGT

Protein change:

G1223del

Links:

dbSNP: rs2151200003

NCBI 1000 Genomes Browser:

rs2151200003

Molecular consequence:

NM_000057.4:c.4060_4062del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001287246.2:c.4060_4062del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001287247.2:c.3667_3669del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001287248.2:c.2935_2937del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Bloom syndrome (BLM)
Synonyms:: Bloom-Torre-Machacek syndrome; Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
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
SCV002278712	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 11, 2023)	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

SCV002278712

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 11, 2023)

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	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 Invitae, SCV002278712.4

#	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.4060_4062del, results in the deletion of 1 amino acid(s) of the BLM protein (p.Gly1354del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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: 1498471). 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: May 1, 2024

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