NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val) AND Rothmund-Thomson syndrome type 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 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:: RCV002254680.4

Allele description [Variation Report for NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val)]

NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val)

Gene:

RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val)

HGVS:

NC_000008.11:g.144515216G>C
NG_016430.2:g.7611C>G
NG_033083.1:g.2252G>C
NM_004260.4:c.1417C>GMANE SELECT
NP_004251.4:p.Leu473Val
LRG_277t1:c.1417C>G
LRG_277:g.7611C>G
LRG_277p1:p.Leu473Val
NC_000008.10:g.145740600G>C
NG_016430.1:g.7611C>G
NM_004260.3:c.1417C>G

Protein change:

L473V

Links:

dbSNP: rs587778654

NCBI 1000 Genomes Browser:

rs587778654

Molecular consequence:

NM_004260.4:c.1417C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Rothmund-Thomson syndrome type 2 (RTS2)
Identifiers:: MONDO: MONDO:0016369; MedGen: C5203410; OMIM: 268400

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
SCV002526019	St. Jude Molecular Pathology, St. Jude Children's Research Hospital	criteria provided, single submitter (St. Jude Assertion Criteria 2020)	Uncertain significance (Mar 24, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002526019

St. Jude Molecular Pathology, St. Jude Children's Research Hospital

criteria provided, single submitter

(St. Jude Assertion Criteria 2020)

Uncertain significance
(Mar 24, 2022)

germline

clinical testing

Citation Link

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

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV002526019.2

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

Description

The RECQL4 c.1417C>G (p.Leu473Val) missense change is absent in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/). In silico tools predict a deleterious effect of this variant on protein function (PP3), but to our knowledge these predictions have not been confirmed by functional assays. To our knowledge, this variant has not been reported in individuals with RECQL4-associated disorders. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_supporting, PP3.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine