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NM_004408.4(DNM1):c.543G>A (p.Leu181=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 26, 2017
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:
RCV002346074.9

Allele description [Variation Report for NM_004408.4(DNM1):c.543G>A (p.Leu181=)]

NM_004408.4(DNM1):c.543G>A (p.Leu181=)

Genes:
LOC113839516:Sharpr-MPRA regulatory region 8497 [Gene]
DNM1:dynamin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_004408.4(DNM1):c.543G>A (p.Leu181=)
HGVS:
  • NC_000009.12:g.128219206G>A
  • NG_029726.1:g.20823G>A
  • NM_001005336.3:c.543G>A
  • NM_001288737.2:c.543G>A
  • NM_001288738.2:c.543G>A
  • NM_001288739.2:c.543G>A
  • NM_001374269.1:c.543G>A
  • NM_004408.4:c.543G>AMANE SELECT
  • NP_001005336.1:p.Leu181=
  • NP_001275666.1:p.Leu181=
  • NP_001275667.1:p.Leu181=
  • NP_001275668.1:p.Leu181=
  • NP_001361198.1:p.Leu181=
  • NP_004399.2:p.Leu181=
  • NC_000009.11:g.130981485G>A
  • NM_004408.2:c.543G>A
  • NM_004408.3:c.543G>A
Links:
dbSNP: rs759118746
NCBI 1000 Genomes Browser:
rs759118746
Molecular consequence:
  • NM_001005336.3:c.543G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001288737.2:c.543G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001288738.2:c.543G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001288739.2:c.543G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374269.1:c.543G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004408.4:c.543G>A - 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
SCV002652257Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 26, 2017) 		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, SCV002652257.2

#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: Nov 24, 2024