NM_002907.4(RECQL):c.468T>G (p.Ile156Met) AND not provided

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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 24, 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:: RCV001230378.2

Allele description

NM_002907.4(RECQL):c.468T>G (p.Ile156Met)

Gene:

RECQL:RecQ like helicase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_002907.4(RECQL):c.468T>G (p.Ile156Met)

HGVS:

NC_000012.12:g.21486512A>C
NM_002907.4:c.468T>GMANE SELECT
NM_032941.2:c.468T>G
NP_002898.2:p.Ile156Met
NP_116559.1:p.Ile156Met
NC_000012.11:g.21639446A>C
NM_002907.3:c.468T>G

Protein change:

I156M

Links:

dbSNP: rs777214281

NCBI 1000 Genomes Browser:

rs777214281

Molecular consequence:

NM_002907.4:c.468T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_032941.2:c.468T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001402854	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 24, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 29341116, 30224651, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001402854

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 24, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer.

Tervasmäki A, Mantere T, Hartikainen JM, Kauppila S, Lee HM, Koivuluoma S, Grip M, Karihtala P, Jukkola-Vuorinen A, Mannermaa A, Winqvist R, Pylkäs K.

Int J Cancer. 2018 Jun 1;142(11):2286-2292. doi: 10.1002/ijc.31259. Epub 2018 Jan 31.

PubMed [citation]

PMID:: 29341116

Mutations in RECQL are not associated with breast cancer risk in an Australian population.

Li N, Rowley SM, Goode DL, Amarasinghe KC, McInerny S, Devereux L; LifePool Investigators., Wong-Brown MW, Lupat R, Lee JEA, Hughes S, Thompson ER, Zethoven M, Li J, Trainer AH, Gorringe KL, Scott RJ, James PA, Campbell IG.

Nat Genet. 2018 Oct;50(10):1346-1348. doi: 10.1038/s41588-018-0206-9. No abstract available.

PubMed [citation]

PMID:: 30224651

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001402854.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces isoleucine with methionine at codon 156 of the RECQL protein (p.Ile156Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs777214281, ExAC 0.05%). This variant has been observed to segregate with breast cancer in one family (PMID: 29341116). Also, it has been observed in several individuals affected with breast and/or ovarian cancer (PMID: 29341116, 30224651). ClinVar contains an entry for this variant (Variation ID: 584818). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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: Mar 22, 2021

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