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NM_020774.4(MIB1):c.365A>T (p.His122Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 10, 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:
RCV002827045.2

Allele description [Variation Report for NM_020774.4(MIB1):c.365A>T (p.His122Leu)]

NM_020774.4(MIB1):c.365A>T (p.His122Leu)

Gene:
MIB1:MIB E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_020774.4(MIB1):c.365A>T (p.His122Leu)
HGVS:
  • NC_000018.10:g.21765907A>T
  • NG_033272.2:g.65951A>T
  • NM_020774.4:c.365A>TMANE SELECT
  • NP_065825.1:p.His122Leu
  • NP_065825.1:p.His122Leu
  • LRG_759t1:c.365A>T
  • LRG_759:g.65951A>T
  • LRG_759p1:p.His122Leu
  • NC_000018.9:g.19345868A>T
  • NM_020774.2:c.365A>T
  • NM_020774.3:c.365A>T
Protein change:
H122L
Molecular consequence:
  • NM_020774.4:c.365A>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003614970Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 10, 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, SCV003614970.2

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

Description

The c.365A>T (p.H122L) alteration is located in exon 2 (coding exon 2) of the MIB1 gene. This alteration results from a A to T substitution at nucleotide position 365, causing the histidine (H) at amino acid position 122 to be replaced by a leucine (L). 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 1, 2024