NM_004260.4(RECQL4):c.78G>T (p.Pro26=) AND Baller-Gerold syndrome

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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 7, 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:: RCV002178608.5

Allele description

NM_004260.4(RECQL4):c.78G>T (p.Pro26=)

Genes:

LOC130001411:ATAC-STARR-seq lymphoblastoid silent region 19699 [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.78G>T (p.Pro26=)

HGVS:

NC_000008.11:g.144517707C>A
NG_016430.2:g.5120G>T
NG_033083.1:g.4743C>A
NM_004260.4:c.78G>TMANE SELECT
NP_004251.4:p.Pro26=
LRG_277t1:c.78G>T
LRG_277:g.5120G>T
LRG_277p1:p.Pro26=
NC_000008.10:g.145743091C>A
NG_016430.1:g.5120G>T

Links:

dbSNP: rs2130745226

NCBI 1000 Genomes Browser:

rs2130745226

Molecular consequence:

NM_004260.4:c.78G>T - synonymous variant - [Sequence Ontology: SO:0001819]

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 chromosome 7, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 7, GRCh38.p14 Primary Assembly
gi|568815591|gnl|ASM:GCF_000001305| |NC_000007.14||gpp|GPC_000001299.1||gnl|NCBI_GENOMES|7

Nucleotide
RAD51AP1 RAD51 associated protein 1 [Homo sapiens]
RAD51AP1 RAD51 associated protein 1 [Homo sapiens]
Gene ID:10635

Gene
Gene Links for Nucleotide (Select 2217286922) (1)
Gene
ClinVar for Gene (Select 5814) (41)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002479326	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 7, 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

SCV002479326

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 7, 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 Invitae, SCV002479326.3

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

#	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 28, 2024

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