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NM_032608.7(MYO18B):c.307G>C (p.Asp103His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 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:
RCV003249423.2

Allele description [Variation Report for NM_032608.7(MYO18B):c.307G>C (p.Asp103His)]

NM_032608.7(MYO18B):c.307G>C (p.Asp103His)

Gene:
MYO18B:myosin XVIIIB [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_032608.7(MYO18B):c.307G>C (p.Asp103His)
HGVS:
  • NC_000022.11:g.25768223G>C
  • NG_046772.1:g.31080G>C
  • NG_046772.2:g.31037G>C
  • NM_001318245.2:c.307G>C
  • NM_032608.7:c.307G>CMANE SELECT
  • NP_001305174.1:p.Asp103His
  • NP_115997.5:p.Asp103His
  • NC_000022.10:g.26164190G>C
  • NM_032608.5:c.307G>C
Protein change:
D103H
Molecular consequence:
  • NM_001318245.2:c.307G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032608.7:c.307G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003965385Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 24, 2023) 		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, SCV003965385.2

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

Description

The c.307G>C (p.D103H) alteration is located in exon 4 (coding exon 3) of the MYO18B gene. This alteration results from a G to C substitution at nucleotide position 307, causing the aspartic acid (D) at amino acid position 103 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024