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NM_001270974.2(HYDIN):c.6557G>C (p.Gly2186Ala) AND Primary ciliary dyskinesia 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 26, 2020
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:
RCV001542356.1

Allele description [Variation Report for NM_001270974.2(HYDIN):c.6557G>C (p.Gly2186Ala)]

NM_001270974.2(HYDIN):c.6557G>C (p.Gly2186Ala)

Gene:
HYDIN:HYDIN axonemal central pair apparatus protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.2
Genomic location:
Preferred name:
NM_001270974.2(HYDIN):c.6557G>C (p.Gly2186Ala)
HGVS:
  • NC_000016.10:g.70943924C>G
  • NG_033116.2:g.291799G>C
  • NM_001270974.2:c.6557G>CMANE SELECT
  • NP_001257903.1:p.Gly2186Ala
  • NC_000016.9:g.70977827C>G
  • NM_001270974.1:c.6557G>C
Protein change:
G2186A
Links:
dbSNP: rs191539779
NCBI 1000 Genomes Browser:
rs191539779
Molecular consequence:
  • NM_001270974.2:c.6557G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary ciliary dyskinesia 5
Synonyms:
CILIARY DYSKINESIA, PRIMARY, 5, WITHOUT SITUS INVERSUS
Identifiers:
MONDO: MONDO:0012088; MedGen: C1837615; Orphanet: 244; OMIM: 608647

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001761045New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jun 26, 2020) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001761045.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The inherited c.6557G>C (p.Gly2186Ala) variant identified in the HYDIN gene substitutes a conserved Glycine for Alanine at amino acid 2186/5122 (exon 42/86). This variant is found in 78 heterozygotes in gnomAD(v3.0) (0 homozygotes), with an allele frequency of 5.45e-4. In silico algorithms predict this variant to be Neutral (Provean; score:-0.71) and Tolerated (SIFT; score: 1.0) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Gly2186 residue is not within a mapped domain of HYDIN (UniProtKB:Q4G0P3). Given the lack of compelling evidence for its pathogenicity, the inherited c.6557G>C (p.Gly2186Ala) variant identified in the HYDIN gene is reported as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023