NM_004260.4(RECQL4):c.1178G>A (p.Gly393Asp) AND Baller-Gerold syndrome

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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 17, 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:: RCV003508927.1

Allele description

NM_004260.4(RECQL4):c.1178G>A (p.Gly393Asp)

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.1178G>A (p.Gly393Asp)

HGVS:

NC_000008.11:g.144515844C>T
NG_016430.2:g.6983G>A
NG_033083.1:g.2880C>T
NG_033083.2:g.2854C>T
NM_001413017.1:c.1082G>A
NM_001413018.1:c.1178G>A
NM_001413019.1:c.1178G>A
NM_001413020.1:c.1082G>A
NM_001413021.1:c.107G>A
NM_001413022.1:c.107G>A
NM_001413023.1:c.107G>A
NM_001413024.1:c.107G>A
NM_001413025.1:c.1049G>A
NM_001413027.1:c.45G>A
NM_001413028.1:c.107G>A
NM_001413029.1:c.827G>A
NM_001413030.1:c.45G>A
NM_001413031.1:c.45G>A
NM_001413032.1:c.45G>A
NM_001413033.1:c.1178G>A
NM_001413034.1:c.107G>A
NM_001413035.1:c.107G>A
NM_001413036.1:c.1178G>A
NM_001413037.1:c.107G>A
NM_001413038.1:c.107G>A
NM_001413039.1:c.1178G>A
NM_001413040.1:c.107G>A
NM_001413041.1:c.45G>A
NM_001413042.1:c.107G>A
NM_001413043.1:c.-210+144G>A
NM_004260.4:c.1178G>AMANE SELECT
NP_001399946.1:p.Gly361Asp
NP_001399947.1:p.Gly393Asp
NP_001399948.1:p.Gly393Asp
NP_001399949.1:p.Gly361Asp
NP_001399950.1:p.Gly36Asp
NP_001399951.1:p.Gly36Asp
NP_001399952.1:p.Gly36Asp
NP_001399953.1:p.Gly36Asp
NP_001399954.1:p.Gly350Asp
NP_001399956.1:p.Trp15Ter
NP_001399957.1:p.Gly36Asp
NP_001399958.1:p.Gly276Asp
NP_001399959.1:p.Trp15Ter
NP_001399960.1:p.Trp15Ter
NP_001399961.1:p.Trp15Ter
NP_001399962.1:p.Gly393Asp
NP_001399963.1:p.Gly36Asp
NP_001399964.1:p.Gly36Asp
NP_001399965.1:p.Gly393Asp
NP_001399966.1:p.Gly36Asp
NP_001399967.1:p.Gly36Asp
NP_001399968.1:p.Gly393Asp
NP_001399969.1:p.Gly36Asp
NP_001399970.1:p.Trp15Ter
NP_001399971.1:p.Gly36Asp
NP_004251.4:p.Gly393Asp
LRG_277t1:c.1178G>A
LRG_277:g.6983G>A
LRG_277p1:p.Gly393Asp
NC_000008.10:g.145741228C>T
NR_182090.1:n.1227G>A
NR_182091.1:n.1227G>A
NR_182092.1:n.1227G>A

Protein change:

G276D

Molecular consequence:

NM_001413043.1:c.-210+144G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001413017.1:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413018.1:c.1178G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413019.1:c.1178G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413020.1:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413021.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413022.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413023.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413024.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413025.1:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413028.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413029.1:c.827G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413033.1:c.1178G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413034.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413035.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413036.1:c.1178G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413037.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413038.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413039.1:c.1178G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413040.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001413042.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004260.4:c.1178G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_182090.1:n.1227G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_182091.1:n.1227G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_182092.1:n.1227G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001413027.1:c.45G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001413030.1:c.45G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001413031.1:c.45G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001413032.1:c.45G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001413041.1:c.45G>A - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004300933	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 17, 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

SCV004300933

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 17, 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, SCV004300933.1

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

Description

This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 393 of the RECQL4 protein (p.Gly393Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RECQL4 protein function with a negative predictive value of 80%. 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: Feb 20, 2024

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