NM_173628.4(DNAH17):c.5239G>A (p.Ala1747Thr) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 19, 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:: RCV004376553.1

Allele description [Variation Report for NM_173628.4(DNAH17):c.5239G>A (p.Ala1747Thr)]

NM_173628.4(DNAH17):c.5239G>A (p.Ala1747Thr)

Genes:

DNAH17-AS1:DNAH17 antisense RNA 1 [Gene - HGNC]
DNAH17:dynein axonemal heavy chain 17 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_173628.4(DNAH17):c.5239G>A (p.Ala1747Thr)

HGVS:

NC_000017.11:g.78501825C>T
NM_173628.4:c.5239G>AMANE SELECT
NP_775899.3:p.Ala1747Thr
NC_000017.10:g.76497907C>T
NM_173628.3:c.5239G>A
NR_102401.1:n.3932C>T

Protein change:

A1747T

Molecular consequence:

NM_173628.4:c.5239G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_102401.1:n.3932C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Recent activity

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sodium channel protein type 7 subunit alpha isoform X5 [Rattus norvegicus]
sodium channel protein type 7 subunit alpha isoform X5 [Rattus norvegicus]
gi|2678931822|ref|XP_063140572.1|

Protein
sodium channel protein type 7 subunit alpha isoform X1 [Rattus norvegicus]
sodium channel protein type 7 subunit alpha isoform X1 [Rattus norvegicus]
gi|1958763815|ref|XP_038961706.1|

Protein
Geoffroy's Cat
Geoffroy's Cat

biosample
Hp22h_3
Hp22h_3

biosample
protein ARV1 isoform 1 [Homo sapiens]
protein ARV1 isoform 1 [Homo sapiens]
gi|1102130449|ref|NP_001333921.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004856930	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 19, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004856930

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 19, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004856930.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.5239G>A (p.A1747T) alteration is located in exon 34 (coding exon 33) of the DNAH17 gene. This alteration results from a G to A substitution at nucleotide position 5239, causing the alanine (A) at amino acid position 1747 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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