NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=) AND Corneal dystrophy-perceptive deafness syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 9, 2020
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:
RCV001277006.1

Allele description [Variation Report for NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=)]

NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=)

Gene:
SLC4A11:solute carrier family 4 member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=)
HGVS:
  • NC_000020.11:g.3228957G>A
  • NG_012093.2:g.25091G>A
  • NG_017072.1:g.15285C>T
  • NM_001174089.2:c.2073C>TMANE SELECT
  • NM_001174090.2:c.2202C>T
  • NM_001363745.2:c.1959C>T
  • NM_032034.4:c.2121C>T
  • NP_001167560.1:p.Asn691=
  • NP_001167561.1:p.Asn734=
  • NP_001350674.1:p.Asn653=
  • NP_114423.1:p.Asn707=
  • NP_114423.1:p.Asn707=
  • NC_000020.10:g.3209603G>A
  • NM_032034.3:c.2121C>T
  • NR_135000.1:n.2171C>T
Links:
dbSNP: rs201982813
NCBI 1000 Genomes Browser:
rs201982813
Molecular consequence:
  • NR_135000.1:n.2171C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001174089.2:c.2073C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001174090.2:c.2202C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363745.2:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_032034.4:c.2121C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Corneal dystrophy-perceptive deafness syndrome (CDPD)
Synonyms:
Corneal dystrophy and perceptive deafness; Congenital corneal dystrophy, progressive sensorineural deafness; Harboyan syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009015; MedGen: C1857572; Orphanet: 1490; OMIM: 217400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001463736Natera, Inc.
no assertion criteria provided
Likely benign
(Jan 9, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001463736.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024