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NM_173628.4(DNAH17):c.13216A>G (p.Ile4406Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 25, 2023
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:
RCV004376511.1

Allele description [Variation Report for NM_173628.4(DNAH17):c.13216A>G (p.Ile4406Val)]

NM_173628.4(DNAH17):c.13216A>G (p.Ile4406Val)

Genes:
DNAH17:dynein axonemal heavy chain 17 [Gene - OMIM - HGNC]
PGS1:phosphatidylglycerophosphate synthase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_173628.4(DNAH17):c.13216A>G (p.Ile4406Val)
HGVS:
  • NC_000017.11:g.78424079T>C
  • NM_024419.5:c.*29T>CMANE SELECT
  • NM_173628.4:c.13216A>GMANE SELECT
  • NP_775899.3:p.Ile4406Val
  • NC_000017.10:g.76420160T>C
  • NM_173628.3:c.13216A>G
  • NR_110601.2:n.1566T>C
  • NR_110602.2:n.1651T>C
  • NR_111989.2:n.1469T>C
Protein change:
I4406V
Molecular consequence:
  • NM_024419.5:c.*29T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_173628.4:c.13216A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110601.2:n.1566T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110602.2:n.1651T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_111989.2:n.1469T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004856884Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 25, 2023) 		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, SCV004856884.1

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

Description

The c.13216A>G (p.I4406V) alteration is located in exon 81 (coding exon 80) of the DNAH17 gene. This alteration results from a A to G substitution at nucleotide position 13216, causing the isoleucine (I) at amino acid position 4406 to be replaced by a valine (V). 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: Sep 1, 2024