NM_000381.4(MID1):c.1230C>T (p.Ser410=) AND not specified

Clinical significance:Benign (Last evaluated: Oct 8, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000078675.10

Allele description [Variation Report for NM_000381.4(MID1):c.1230C>T (p.Ser410=)]

NM_000381.4(MID1):c.1230C>T (p.Ser410=)

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.1230C>T (p.Ser410=)
HGVS:
  • NC_000023.11:g.10469752G>A
  • NG_008197.1:g.368939C>T
  • NG_008197.2:g.368939C>T
  • NM_000381.4:c.1230C>TMANE SELECT
  • NM_001098624.2:c.1230C>T
  • NM_001193277.1:c.1230C>T
  • NM_001193278.1:c.1383C>T
  • NM_001193279.1:c.1230C>T
  • NM_001193280.1:c.1116C>T
  • NM_001347733.2:c.1230C>T
  • NM_033289.2:c.1116C>T
  • NM_033290.4:c.1230C>T
  • NP_000372.1:p.Ser410=
  • NP_000372.1:p.Ser410=
  • NP_001092094.1:p.Ser410=
  • NP_001180206.1:p.Ser410=
  • NP_001180207.1:p.Ser461=
  • NP_001180208.1:p.Ser410=
  • NP_001180209.1:p.Ser372=
  • NP_001334662.1:p.Ser410=
  • NP_150631.1:p.Ser372=
  • NP_150632.1:p.Ser410=
  • NC_000023.10:g.10437792G>A
  • NM_000381.2:c.1230C>T
  • NM_000381.3:c.1230C>T
  • NP_000372.1:p.(=)
Links:
dbSNP: rs16986145
NCBI 1000 Genomes Browser:
rs16986145
Molecular consequence:
  • NM_000381.4:c.1230C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001098624.2:c.1230C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001193277.1:c.1230C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001193278.1:c.1383C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001193279.1:c.1230C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001193280.1:c.1116C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347733.2:c.1230C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033289.2:c.1116C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033290.4:c.1230C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
5

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110535EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Oct 8, 2012)
germlineclinical testing

Citation Link,

SCV000151851Genetic Services Laboratory,University of Chicagono assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown5not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000110535.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided5not providednot providednot provided

From Genetic Services Laboratory,University of Chicago, SCV000151851.2

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

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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

Last Updated: Nov 27, 2021

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