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NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 31, 2018
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:
RCV002372393.2

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=)]

NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=)

Genes:
LOC126862060:BRD4-independent group 4 enhancer GRCh37_chr14:102493659-102494858 [Gene]
DYNC1H1:dynein cytoplasmic 1 heavy chain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.31
Genomic location:
Preferred name:
NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=)
HGVS:
  • NC_000014.9:g.102028003A>G
  • NG_008777.1:g.68476A>G
  • NM_001376.5:c.9330A>GMANE SELECT
  • NP_001367.2:p.Thr3110=
  • NC_000014.8:g.102494340A>G
  • NM_001376.4:c.9330A>G
Links:
dbSNP: rs371538443
NCBI 1000 Genomes Browser:
rs371538443
Molecular consequence:
  • NM_001376.5:c.9330A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002687377Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 31, 2018) 		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, SCV002687377.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024