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NM_005450.6(NOG):c.611G>A (p.Arg204Gln) AND Tarsal-carpal coalition syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2016
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:
RCV000416327.3

Allele description [Variation Report for NM_005450.6(NOG):c.611G>A (p.Arg204Gln)]

NM_005450.6(NOG):c.611G>A (p.Arg204Gln)

Gene:
NOG:noggin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_005450.6(NOG):c.611G>A (p.Arg204Gln)
HGVS:
  • NC_000017.11:g.56594834G>A
  • NG_011958.1:g.6136G>A
  • NM_005450.6:c.611G>AMANE SELECT
  • NP_005441.1:p.Arg204Gln
  • NC_000017.10:g.54672195G>A
  • NM_005450.4:c.611G>A
  • p.Arg204Gln
Protein change:
R204Q
Links:
dbSNP: rs104894610
NCBI 1000 Genomes Browser:
rs104894610
Molecular consequence:
  • NM_005450.6:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tarsal-carpal coalition syndrome
Identifiers:
MONDO: MONDO:0008521; MedGen: C1861305; Orphanet: 1412; OMIM: 186570

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494025Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2016) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1yesresearch

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

Details of each submission

From Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS, SCV000494025.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearch PubMed (1)

Description

Mother and Sister of the patient was also similarly affected

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1blooddiscovery1not providednot providednot provided

Last Updated: Sep 29, 2024