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NM_020191.3(MRPS22):c.1032_1035dup (p.Leu346fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2016
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:
RCV001197161.1

Allele description

NM_020191.3(MRPS22):c.1032_1035dup (p.Leu346fs)

Genes:
COPB2:COPI coat complex subunit beta 2 [Gene - OMIM - HGNC]
MRPS22:mitochondrial ribosomal protein S22 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q23
Genomic location:
Preferred name:
NM_020191.3(MRPS22):c.1032_1035dup (p.Leu346fs)
HGVS:
  • NC_000003.12:g.139356963_139356966dup
  • NG_012174.1:g.17945_17948dup
  • NM_001363857.1:c.909_912dup
  • NM_001363893.1:c.1029_1032dup
  • NM_020191.3:c.1032_1035dup
  • NP_001350786.1:p.Leu305fs
  • NP_001350822.1:p.Leu345fs
  • NP_064576.1:p.Leu346fs
  • NC_000003.11:g.139075805_139075808dup
  • NM_020191.2:c.1032_1035dupAACA
Protein change:
L305fs
Links:
dbSNP: rs772578397
NCBI 1000 Genomes Browser:
rs772578397
Molecular consequence:
  • NM_001363857.1:c.909_912dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363893.1:c.1029_1032dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020191.3:c.1032_1035dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Abnormality of metabolism/homeostasis
Synonyms:
Laboratory abnormality; Metabolism abnormality
Identifiers:
MedGen: C4021768; Human Phenotype Ontology: HP:0001939
Name:
Microcephaly
Synonyms:
Reduced head circumference; Small head circumference; small calvarium; See all synonyms [MedGen]
Identifiers:
MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Cerebral calcification
Synonyms:
Brain calcification; Intracerebral calcifications; Intracranial calcification; See all synonyms [MedGen]
Identifiers:
MedGen: C0270685; Human Phenotype Ontology: HP:0002514

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001367797Centre for Mendelian Genomics,University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG guidelines, Richards 2015)		Pathogenic
(Jan 1, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]
PMID:
30311386
PMCID:
PMC6188673

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001367797.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PM6. This variant was detected in heterozygous state.

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

Last Updated: Nov 14, 2020