NM_004260.4(RECQL4):c.1424_1425delinsCC (p.Gln475Pro) AND Baller-Gerold syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 10, 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:: RCV001345110.4

Allele description [Variation Report for NM_004260.4(RECQL4):c.1424_1425delinsCC (p.Gln475Pro)]

NM_004260.4(RECQL4):c.1424_1425delinsCC (p.Gln475Pro)

Gene:

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

Variant type:

Indel

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_004260.4(RECQL4):c.1424_1425delinsCC (p.Gln475Pro)

HGVS:

NC_000008.11:g.144515208_144515209delinsGG
NG_016430.2:g.7618_7619delinsCC
NG_033083.1:g.2244_2245delinsGG
NM_004260.4:c.1424_1425delinsCCMANE SELECT
NP_004251.4:p.Gln475Pro
LRG_277t1:c.1424_1425delinsCC
LRG_277:g.7618_7619delinsCC
LRG_277p1:p.Gln475Pro
NC_000008.10:g.145740592_145740593delinsGG
NG_016430.1:g.7618_7619delinsCC

Protein change:

Q475P

Links:

dbSNP: rs1827982877

NCBI 1000 Genomes Browser:

rs1827982877

Molecular consequence:

NM_004260.4:c.1424_1425delinsCC - 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

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Homo sapiens ribosomal protein L3 pseudogene 7 (RPL3P7) on chromosome 6
Homo sapiens ribosomal protein L3 pseudogene 7 (RPL3P7) on chromosome 6
gi|224493747|ref|NG_010941.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001539210	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 10, 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

SCV001539210

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 10, 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001539210.3

#	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 glutamine with proline at codon 475 of the RECQL4 protein (p.Gln475Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1041318). 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.

#	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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