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NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu) AND Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 26, 2021
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:
RCV001526478.1

Allele description [Variation Report for NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu)]

NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu)

Gene:
FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu)
HGVS:
  • NC_000004.12:g.1804464A>G
  • NG_012632.1:g.16153A>G
  • NM_000142.5:c.1210A>GMANE SELECT
  • NM_001163213.2:c.1216A>G
  • NM_001354809.2:c.1210A>G
  • NM_001354810.2:c.1210A>G
  • NM_022965.4:c.931-360A>G
  • NP_000133.1:p.Lys404Glu
  • NP_001156685.1:p.Lys406Glu
  • NP_001341738.1:p.Lys404Glu
  • NP_001341739.1:p.Lys404Glu
  • LRG_1021t1:c.1210A>G
  • LRG_1021:g.16153A>G
  • NC_000004.11:g.1806191A>G
  • NM_000142.4:c.1210A>G
  • NR_148971.2:n.1636A>G
Protein change:
K404E
Links:
dbSNP: rs780415133
NCBI 1000 Genomes Browser:
rs780415133
Molecular consequence:
  • NM_022965.4:c.931-360A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000142.5:c.1210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163213.2:c.1216A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354809.2:c.1210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354810.2:c.1210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148971.2:n.1636A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Synonyms:
Severe achondroplasia with developmental delay and acanthosis nigricans; SADDAN dysplasia; Skeleton skin brain syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0014658; MedGen: C2674173; Orphanet: 85165; OMIM: 616482

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001736899HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 26, 2021) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedresearch

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001736899.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG codes:PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024