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NM_000381.4(MID1):c.498G>A (p.Pro166=) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 31, 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:
RCV002313748.9

Allele description [Variation Report for NM_000381.4(MID1):c.498G>A (p.Pro166=)]

NM_000381.4(MID1):c.498G>A (p.Pro166=)

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.498G>A (p.Pro166=)
HGVS:
  • NC_000023.11:g.10567050C>T
  • NG_008197.2:g.271641G>A
  • NM_000381.4:c.498G>AMANE SELECT
  • NM_001098624.2:c.498G>A
  • NM_001193277.1:c.498G>A
  • NM_001193278.1:c.498G>A
  • NM_001193279.1:c.498G>A
  • NM_001193280.1:c.498G>A
  • NM_001347733.2:c.498G>A
  • NM_033289.2:c.498G>A
  • NM_033290.4:c.498G>A
  • NP_000372.1:p.Pro166=
  • NP_000372.1:p.Pro166=
  • NP_001092094.1:p.Pro166=
  • NP_001180206.1:p.Pro166=
  • NP_001180207.1:p.Pro166=
  • NP_001180208.1:p.Pro166=
  • NP_001180209.1:p.Pro166=
  • NP_001334662.1:p.Pro166=
  • NP_150631.1:p.Pro166=
  • NP_150632.1:p.Pro166=
  • NC_000023.10:g.10535090C>T
  • NG_008197.1:g.271641G>A
  • NM_000381.2:c.498G>A
  • NM_000381.3:c.498G>A
  • NP_000372.1:p.(=)
Links:
dbSNP: rs7391874
NCBI 1000 Genomes Browser:
rs7391874
Molecular consequence:
  • NM_000381.4:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001098624.2:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001193277.1:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001193278.1:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001193279.1:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001193280.1:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347733.2:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033289.2:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033290.4:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000847851Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Aug 31, 2016) 		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, SCV000847851.5

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024