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NM_013451.4(MYOF):c.164G>C (p.Arg55Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 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:
RCV004457485.1

Allele description [Variation Report for NM_013451.4(MYOF):c.164G>C (p.Arg55Thr)]

NM_013451.4(MYOF):c.164G>C (p.Arg55Thr)

Gene:
MYOF:myoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_013451.4(MYOF):c.164G>C (p.Arg55Thr)
HGVS:
  • NC_000010.11:g.93452122C>G
  • NM_013451.4:c.164G>CMANE SELECT
  • NM_133337.3:c.164G>C
  • NP_038479.1:p.Arg55Thr
  • NP_579899.1:p.Arg55Thr
  • NC_000010.10:g.95211879C>G
  • NM_013451.3:c.164G>C
Protein change:
R55T
Molecular consequence:
  • NM_013451.4:c.164G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133337.3:c.164G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004957702Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 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, SCV004957702.1

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

Description

The c.164G>C (p.R55T) alteration is located in exon 3 (coding exon 3) of the MYOF gene. This alteration results from a G to C substitution at nucleotide position 164, causing the arginine (R) at amino acid position 55 to be replaced by a threonine (T). 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 7, 2024