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NM_000112.4(SLC26A2):c.374A>T (p.Gln125Leu) AND Atelosteogenesis type II

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 9, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000211636.3

Allele description [Variation Report for NM_000112.4(SLC26A2):c.374A>T (p.Gln125Leu)]

NM_000112.4(SLC26A2):c.374A>T (p.Gln125Leu)

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.374A>T (p.Gln125Leu)
HGVS:
  • NC_000005.10:g.149978026A>T
  • NG_007147.2:g.19144A>T
  • NM_000112.4:c.374A>TMANE SELECT
  • NP_000103.2:p.Gln125Leu
  • NP_000103.2:p.Gln125Leu
  • LRG_684t1:c.374A>T
  • LRG_684:g.19144A>T
  • LRG_684p1:p.Gln125Leu
  • NC_000005.9:g.149357589A>T
  • NM_000112.3:c.374A>T
Protein change:
Q125L
Links:
dbSNP: rs875989951
NCBI 1000 Genomes Browser:
rs875989951
Molecular consequence:
  • NM_000112.4:c.374A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Atelosteogenesis type II (AO2)
Synonyms:
NEONATAL OSSEOUS DYSPLASIA I; Neonatal osseous dysplasia 1; Atelosteogenesis type 2
Identifiers:
MONDO: MONDO:0009727; MedGen: C1850554; Orphanet: 56304; OMIM: 256050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000268695Genomic Research Center, Shahid Beheshti University of Medical Sciences
no assertion criteria provided
Pathogenic
(May 9, 2016) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Persianinheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000268695.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Persian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 18, 2023