U.S. flag

An official website of the United States government

NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2019
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:
RCV000787339.3

Allele description [Variation Report for NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro)]

NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro)

Gene:
MYH10:myosin heavy chain 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro)
HGVS:
  • NC_000017.11:g.8492463C>G
  • NG_042305.2:g.143299G>C
  • NM_001256012.3:c.4505G>CMANE SELECT
  • NM_001256095.2:c.4439G>C
  • NM_001375266.1:c.4442G>C
  • NM_005964.5:c.4412G>C
  • NP_001242941.1:p.Arg1502Pro
  • NP_001243024.1:p.Arg1480Pro
  • NP_001362195.1:p.Arg1481Pro
  • NP_005955.3:p.Arg1471Pro
  • NC_000017.10:g.8395781C>G
  • NG_042305.1:g.143299G>C
  • NM_001256012.1:c.4505G>C
Protein change:
R1471P
Links:
dbSNP: rs755969165
NCBI 1000 Genomes Browser:
rs755969165
Molecular consequence:
  • NM_001256012.3:c.4505G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256095.2:c.4439G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375266.1:c.4442G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005964.5:c.4412G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertelorism
Identifiers:
MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Wide nose
Identifiers:
MedGen: C0426421; Human Phenotype Ontology: HP:0000445
Name:
Epicanthus inversus
Identifiers:
MedGen: C1303003; Human Phenotype Ontology: HP:0000537
Name:
Congenital ptosis
Identifiers:
MedGen: C0266573; Human Phenotype Ontology: HP:0007970
Name:
Midface retrusion
Identifiers:
MedGen: C1853242; Human Phenotype Ontology: HP:0011800

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000898495Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Jan 1, 2019) 		inheritedresearch

publication submitted

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providedyesresearch

Details of each submission

From Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University, SCV000898495.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearchnot provided

Description

Actin anomalies with a phenotype reminiscent of Baraister-Winter syndrome

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

Last Updated: May 27, 2023