NM_004260.4(RECQL4):c.611C>G (p.Ala204Gly) AND Baller-Gerold syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 17, 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:: RCV000697542.5

Allele description [Variation Report for NM_004260.4(RECQL4):c.611C>G (p.Ala204Gly)]

NM_004260.4(RECQL4):c.611C>G (p.Ala204Gly)

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.611C>G (p.Ala204Gly)

HGVS:

NC_000008.11:g.144516508G>C
NG_016430.2:g.6319C>G
NG_033083.1:g.3544G>C
NM_004260.4:c.611C>GMANE SELECT
NP_004251.3:p.Ala204Gly
NP_004251.4:p.Ala204Gly
LRG_277t1:c.611C>G
LRG_277:g.6319C>G
LRG_277p1:p.Ala204Gly
NC_000008.10:g.145741892G>C
NG_016430.1:g.6319C>G
NM_004260.3:c.611C>G

Protein change:

A204G

Links:

dbSNP: rs757780731

NCBI 1000 Genomes Browser:

rs757780731

Molecular consequence:

NM_004260.4:c.611C>G - 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

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Cilunculus scaurus voucher MNHN-IU-2007-4650 cytochrome oxidase subunit 1 (COI) ...
Cilunculus scaurus voucher MNHN-IU-2007-4650 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|1161056037|gnl|uoguelph|AMMOT001 OI-5P|gb|KX535357.1|

Nucleotide
splicing factor 3B subunit 6-like protein [Carica papaya]
splicing factor 3B subunit 6-like protein [Carica papaya]
gi|1227905550|ref|XP_021888985.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000826161	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 17, 2020)	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

SCV000826161

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 17, 2020)

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV000826161.4

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

Description

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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 575352). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glycine at codon 204 of the RECQL4 protein (p.Ala204Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine.

#	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

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