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NM_021242.6(MID1IP1):c.297C>G (p.Asn99Lys) AND Flexion contracture

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001007798.1

Allele description [Variation Report for NM_021242.6(MID1IP1):c.297C>G (p.Asn99Lys)]

NM_021242.6(MID1IP1):c.297C>G (p.Asn99Lys)

Gene:
MID1IP1:MID1 interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_021242.6(MID1IP1):c.297C>G (p.Asn99Lys)
HGVS:
  • NC_000023.11:g.38805243C>G
  • NM_001098790.2:c.297C>G
  • NM_001098791.2:c.297C>G
  • NM_021242.6:c.297C>GMANE SELECT
  • NP_001092260.1:p.Asn99Lys
  • NP_001092261.1:p.Asn99Lys
  • NP_001092261.1:p.Asn99Lys
  • NP_067065.1:p.Asn99Lys
  • NC_000023.10:g.38664496C>G
  • NM_001098791.1:c.297C>G
Protein change:
N99K
Links:
dbSNP: rs1602158924
NCBI 1000 Genomes Browser:
rs1602158924
Molecular consequence:
  • NM_001098790.2:c.297C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001098791.2:c.297C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021242.6:c.297C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Flexion contracture
Synonyms:
Contracture; Contractures; Flexion deformity
Identifiers:
MedGen: C0333068; Human Phenotype Ontology: HP:0001371

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167484Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Uncertain significanceinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes21not providednot providedyesresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001167484.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyesresearchnot provided

Description

Two genes were thought to be involved in this patient's phenotype including homozygous NEB c.19101+5G>A and hemizygous MID1IP1 c.297C>G variants

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not provided1not provided

Last Updated: Jul 16, 2023