NM_000142.4(FGFR3):c.1619A>G (p.Asn540Ser)

Variation ID: Help
16349
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 26, 2013
Number of submission(s):
2
Condition(s):
Hypochondroplasia[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000142.4(FGFR3):c.1619A>G (p.Asn540Ser)

Allele ID:
31388
Variant type:
single nucleotide variant
Cytogenetic location:
4p16
Genomic location:
  • Chr4: 1805643 (on Assembly GRCh38)
  • Chr4: 1807370 (on Assembly GRCh37)
Other names:
  • c.1619A>G
Protein change:
N540S, N542S
HGVS:
  • NG_012632.1:g.17332A>G
  • NM_000142.4:c.1619A>G
  • NM_001163213.1:c.1625A>G
  • NP_000133.1:p.Asn540Ser
  • NP_001156685.1:p.Asn542Ser
  • NC_000004.12:g.1805643A>G (GRCh38)
  • NC_000004.11:g.1807370A>G (GRCh37)
  • P22607:p.Asn540Ser
Links:
NCBI 1000 Genomes Browser:
rs77722678
Molecular consequence:
NM_000142.4:c.1619A>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00001 (G)

Variant frequency in dbGaP Help

NM_000142.4(FGFR3):c.1619A>G (p.Asn540Ser)

GRCh37 Chr4:1807370
Called variantsPotential variants
Sample count1 of 50902 of 41202

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(May 15, 2003)
no assertion criteria providedliterature onlygermlineOMIMSCV000038036.1
Pathogenic
(Sep 26, 2013)
no assertion criteria providedliterature onlynot providedGeneReviewsSCV000087166.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Aug 10, 2017