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NM_017971.4(MRPL20):c.431G>A (p.Arg144Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 20, 2022
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:
RCV004504479.1

Allele description [Variation Report for NM_017971.4(MRPL20):c.431G>A (p.Arg144Lys)]

NM_017971.4(MRPL20):c.431G>A (p.Arg144Lys)

Gene:
MRPL20:mitochondrial ribosomal protein L20 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_017971.4(MRPL20):c.431G>A (p.Arg144Lys)
HGVS:
  • NC_000001.11:g.1402102C>T
  • NG_029782.1:g.2237G>A
  • NM_001318485.2:c.*467G>A
  • NM_017971.4:c.431G>AMANE SELECT
  • NP_060441.2:p.Arg144Lys
  • NC_000001.10:g.1337482C>T
  • NM_017971.3:c.431G>A
Protein change:
R144K
Molecular consequence:
  • NM_001318485.2:c.*467G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_017971.4:c.431G>A - 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
SCV004996028Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 20, 2022) 		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, SCV004996028.1

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

Description

The c.431G>A (p.R144K) alteration is located in exon 4 (coding exon 4) of the MRPL20 gene. This alteration results from a G to A substitution at nucleotide position 431, causing the arginine (R) at amino acid position 144 to be replaced by a lysine (K). 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