NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 31, 2018
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:: RCV000766003.2

Allele description [Variation Report for NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr)]

NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr)

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.2983T>A (p.Ser995Thr)

HGVS:

NC_000008.11:g.144512464A>T
NG_016430.2:g.10363T>A
NM_004260.4:c.2983T>AMANE SELECT
NP_004251.3:p.Ser995Thr
NP_004251.4:p.Ser995Thr
LRG_277t1:c.2983T>A
LRG_277:g.10363T>A
LRG_277p1:p.Ser995Thr
NC_000008.10:g.145737847A>T
NG_016430.1:g.10363T>A
NM_004260.3:c.2983T>A

Protein change:

S995T

Links:

dbSNP: rs373202723

NCBI 1000 Genomes Browser:

rs373202723

Molecular consequence:

NM_004260.4:c.2983T>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

Name:: Rapadilino syndrome
Synonyms:: Radial and patellar aplasia; Radial and patellar hypoplasia; Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
Identifiers:: MONDO: MONDO:0009955; MedGen: C1849453; Orphanet: 3021; OMIM: 266280

Name:: Rothmund-Thomson syndrome (RTS)
Synonyms:: Poikiloderma Congenitale; Poikiloderma of Rothmund-Thomson
Identifiers:: MONDO: MONDO:0010002; MedGen: C0032339; Orphanet: 2909; OMIM: PS268400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000897435	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 31, 2018)	unknown	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

SCV000897435

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 31, 2018)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]

PMCID:: PMC4544753
PMID:: 25741868
DOI:: 10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000897435.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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