NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) AND History of neurodevelopmental disorder

Clinical significance:Benign (Last evaluated: Mar 21, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000716653.1

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)]

NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)

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.2721T>C (p.Ile907=)
HGVS:
  • NC_000014.9:g.101988705T>C
  • NG_008777.1:g.29178T>C
  • NM_001376.5:c.2721T>CMANE SELECT
  • NP_001367.2:p.Ile907=
  • NC_000014.8:g.102455042T>C
  • NM_001376.4:c.2721T>C
Links:
dbSNP: rs114021657
NCBI 1000 Genomes Browser:
rs114021657
Molecular consequence:
  • NM_001376.5:c.2721T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000847495Ambry Geneticscriteria provided, single submitter
Benign
(Mar 21, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000847495.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Synonymous alterations with insufficient evidence to classify as benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

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