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NM_000381.4(MID1):c.107G>A (p.Arg36His) AND X-linked Opitz G/BBB syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 14, 2020
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:
RCV001095776.4

Allele description [Variation Report for NM_000381.4(MID1):c.107G>A (p.Arg36His)]

NM_000381.4(MID1):c.107G>A (p.Arg36His)

Gene:
MID1:midline 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_000381.4(MID1):c.107G>A (p.Arg36His)
HGVS:
  • NC_000023.11:g.10567441C>T
  • NG_008197.2:g.271250G>A
  • NM_000381.3:c.107G>A
  • NM_000381.4:c.107G>AMANE SELECT
  • NM_001098624.2:c.107G>A
  • NM_001193277.1:c.107G>A
  • NM_001193278.1:c.107G>A
  • NM_001193279.1:c.107G>A
  • NM_001193280.1:c.107G>A
  • NM_001347733.2:c.107G>A
  • NM_033289.2:c.107G>A
  • NM_033290.4:c.107G>A
  • NP_000372.1:p.Arg36His
  • NP_001092094.1:p.Arg36His
  • NP_001180206.1:p.Arg36His
  • NP_001180207.1:p.Arg36His
  • NP_001180208.1:p.Arg36His
  • NP_001180209.1:p.Arg36His
  • NP_001334662.1:p.Arg36His
  • NP_150631.1:p.Arg36His
  • NP_150632.1:p.Arg36His
  • NC_000023.10:g.10535481C>T
  • NG_008197.1:g.271250G>A
  • NM_033290.3:c.107G>A
Protein change:
R36H
Links:
dbSNP: rs1270080835
NCBI 1000 Genomes Browser:
rs1270080835
Molecular consequence:
  • NM_000381.4:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001098624.2:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193277.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193278.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193279.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193280.1:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347733.2:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033289.2:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033290.4:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
X-linked Opitz G/BBB syndrome (GBBB)
Synonyms:
OPITZ BBBG SYNDROME, TYPE I; OPITZ SYNDROME, X-LINKED; OPITZ-G SYNDROME, TYPE I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010222; MedGen: C2936904; Orphanet: 2745; OMIM: 300000

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001251621Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Jan 14, 2020) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001251621.2

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

Description

The MID1 c.107G>A (p.Arg36His) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000106 in the South Asian population of the Genome Aggregation Database, though this is based on two alleles in a region of good sequencing coverage, so the variant is presumed to be rare. One of these alleles in the Genome Aggregation Database represents a hemizygote. Based on the limited evidence, the p.Arg36His variant is classified as a variant of unknown significance for X-linked Opitz G/BBB syndrome.

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

Last Updated: May 1, 2024