NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=) AND not specified

Clinical significance:Likely benign (Last evaluated: Dec 16, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000223615.1

Allele description [Variation Report for NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)]

NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)
HGVS:
  • NC_000005.10:g.13814623A>G
  • NG_013081.2:g.134858T>C
  • NM_001369.3:c.7212T>CMANE SELECT
  • NP_001360.1:p.Asp2404=
  • NP_001360.1:p.Asp2404=
  • NC_000005.9:g.13814732A>G
  • NM_001369.2:c.7212T>C
  • p.Asp2404Asp
Links:
dbSNP: rs876657454
NCBI 1000 Genomes Browser:
rs876657454
Molecular consequence:
  • NM_001369.3:c.7212T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000270151Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Dec 16, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000270151.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Asp2404Asp in exon 43 of DNAH5: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.

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

Last Updated: Dec 4, 2021

Support Center