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NM_000112.4(SLC26A2):c.1668G>T (p.Leu556Phe) AND Achondrogenesis, type IB

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 22, 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:
RCV001578825.2

Allele description [Variation Report for NM_000112.4(SLC26A2):c.1668G>T (p.Leu556Phe)]

NM_000112.4(SLC26A2):c.1668G>T (p.Leu556Phe)

Gene:
SLC26A2:solute carrier family 26 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_000112.4(SLC26A2):c.1668G>T (p.Leu556Phe)
HGVS:
  • NC_000005.10:g.149981261G>T
  • NG_007147.2:g.22379G>T
  • NM_000112.4:c.1668G>TMANE SELECT
  • NP_000103.2:p.Leu556Phe
  • LRG_684t1:c.1668G>T
  • LRG_684:g.22379G>T
  • NC_000005.9:g.149360824G>T
  • NM_000112.3:c.1668G>T
Protein change:
L556F
Links:
dbSNP: rs2113699055
NCBI 1000 Genomes Browser:
rs2113699055
Molecular consequence:
  • NM_000112.4:c.1668G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Achondrogenesis, type IB (ACG1B)
Synonyms:
Achondrogenesis Fraccaro type
Identifiers:
MONDO: MONDO:0010966; MedGen: C0265274; Orphanet: 932; Orphanet: 93298; OMIM: 600972

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001806158Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 22, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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

Details of each submission

From Genome-Nilou Lab, SCV001806158.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023