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NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 31, 2014
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:
RCV000210686.3

Allele description [Variation Report for NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)]

NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)

Genes:
LOC126862493:BRD4-independent group 4 enhancer GRCh37_chr17:10295275-10296474 [Gene]
MYH8:myosin heavy chain 8 [Gene - OMIM - HGNC]
MYHAS:myosin heavy chain gene cluster antisense RNA [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)
HGVS:
  • NC_000017.11:g.10392944G>C
  • NG_013015.1:g.34007C>G
  • NM_002472.3:c.5350C>GMANE SELECT
  • NP_002463.2:p.Arg1784Gly
  • NC_000017.10:g.10296261G>C
  • NM_002472.2:c.5350C>G
Protein change:
R1784G
Links:
dbSNP: rs141215006
NCBI 1000 Genomes Browser:
rs141215006
Molecular consequence:
  • NM_002472.3:c.5350C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000262936Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Mar 31, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000262936.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Based on data from the NHLBI Exome Sequencing Project (ESP), the G-allele has an overall frequency of approximately 0.42% (45/10754) total alleles studied. The G-allele was observed in 0.58% (41/7016) European American alleles and in 0.11% (4/3738) African American alleles studied and was not observed in the homozygous state out of 5377 individuals studied. Based on data from the 1000 Genomes Project, the G-allele has an overall frequency of approximately 0.32% (7/2188) and the highest frequency was in 1.82% (2/110) 1.82% Puerto Rican chromosomes studied.The R1784 amino acid is highly conserved among available vertebrate species.This alteration is predicted to be probably damaging with a score of 0.961 (sensitivity: 0.62; specificity: 0.92)This alteration is predicted to be deleterious with a score of 0.000 (conservation: 3.05)

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

Last Updated: Oct 20, 2024