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NM_002116.8(HLA-A):c.658G>C (p.Asp220His) AND Abnormality of neuronal migration

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 31, 2014
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:
RCV000201406.2

Allele description [Variation Report for NM_002116.8(HLA-A):c.658G>C (p.Asp220His)]

NM_002116.8(HLA-A):c.658G>C (p.Asp220His)

Gene:
HLA-A:major histocompatibility complex, class I, A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p22.1
Genomic location:
Preferred name:
NM_002116.8(HLA-A):c.658G>C (p.Asp220His)
HGVS:
  • NC_000006.12:g.29944160G>C
  • NG_029217.2:g.6696G>C
  • NM_001242758.1:c.658G>C
  • NM_002116.8:c.658G>CMANE SELECT
  • NP_001229687.1:p.Asp220His
  • NP_002107.3:p.Asp220His
  • NC_000006.11:g.29911937G>C
  • NM_002116.7:c.658G>C
Protein change:
D220H
Links:
dbSNP: rs281864764
NCBI 1000 Genomes Browser:
rs281864764
Molecular consequence:
  • NM_001242758.1:c.658G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002116.8:c.658G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Abnormality of neuronal migration
Identifiers:
MedGen: C1837249; Human Phenotype Ontology: HP:0002269

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000239988Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire
no assertion criteria provided
Benign
(Oct 31, 2014) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedclinical testing

Details of each submission

From Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire, SCV000239988.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: Jun 23, 2024