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NM_001367479.1(DNAH14):c.13084G>A (p.Ala4362Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 2022
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:
RCV004376427.1

Allele description [Variation Report for NM_001367479.1(DNAH14):c.13084G>A (p.Ala4362Thr)]

NM_001367479.1(DNAH14):c.13084G>A (p.Ala4362Thr)

Gene:
DNAH14:dynein axonemal heavy chain 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.12
Genomic location:
Preferred name:
NM_001367479.1(DNAH14):c.13084G>A (p.Ala4362Thr)
Other names:
NM_001373.1:c.12778G>A
HGVS:
  • NC_000001.11:g.225388385G>A
  • NG_053088.1:g.464964G>A
  • NM_001367479.1:c.13084G>AMANE SELECT
  • NP_001354408.1:p.Ala4362Thr
  • NC_000001.10:g.225576087G>A
Protein change:
A4362T
Molecular consequence:
  • NM_001367479.1:c.13084G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004855564Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 3, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004855564.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.12778G>A (p.A4260T) alteration is located in exon 80 (coding exon 79) of the DNAH14 gene. This alteration results from a G to A substitution at nucleotide position 12778, causing the alanine (A) at amino acid position 4260 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024