U.S. flag

An official website of the United States government

NM_004260.4(RECQL4):c.716C>A (p.Ala239Asp) AND Baller-Gerold syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 21, 2021
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:
RCV002006993.3

Allele description [Variation Report for NM_004260.4(RECQL4):c.716C>A (p.Ala239Asp)]

NM_004260.4(RECQL4):c.716C>A (p.Ala239Asp)

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.716C>A (p.Ala239Asp)
HGVS:
  • NC_000008.11:g.144516403G>T
  • NG_016430.2:g.6424C>A
  • NG_033083.1:g.3439G>T
  • NM_004260.4:c.716C>AMANE SELECT
  • NP_004251.4:p.Ala239Asp
  • LRG_277t1:c.716C>A
  • LRG_277:g.6424C>A
  • LRG_277p1:p.Ala239Asp
  • NC_000008.10:g.145741787G>T
  • NG_016430.1:g.6424C>A
Protein change:
A239D
Links:
dbSNP: rs146709578
NCBI 1000 Genomes Browser:
rs146709578
Molecular consequence:
  • NM_004260.4:c.716C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Baller-Gerold syndrome (BGS)
Synonyms:
Craniosynostosis radial aplasia syndrome; Craniosynostosis with radial defects
Identifiers:
MONDO: MONDO:0009039; MedGen: C0265308; Orphanet: 1225; OMIM: 218600

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002294411Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 21, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV002294411.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with aspartic acid at codon 239 of the RECQL4 protein (p.Ala239Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024