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NM_002107.7(H3-3A):c.386G>A (p.Arg129His) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 15, 2021
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:
RCV001541914.2

Allele description [Variation Report for NM_002107.7(H3-3A):c.386G>A (p.Arg129His)]

NM_002107.7(H3-3A):c.386G>A (p.Arg129His)

Gene:
H3-3A:H3.3 histone A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.12
Genomic location:
Preferred name:
NM_002107.7(H3-3A):c.386G>A (p.Arg129His)
Other names:
H3F3A, ARG129HIS
HGVS:
  • NC_000001.11:g.226071454G>A
  • NG_065173.1:g.13748G>A
  • NM_001379043.1:c.386G>A
  • NM_001379045.1:c.386G>A
  • NM_001379046.1:c.386G>A
  • NM_001379047.1:c.386G>A
  • NM_002107.7:c.386G>AMANE SELECT
  • NP_001365972.1:p.Arg129His
  • NP_001365974.1:p.Arg129His
  • NP_001365975.1:p.Arg129His
  • NP_001365976.1:p.Arg129His
  • NP_002098.1:p.Arg129His
  • LRG_1410t1:c.386G>A
  • LRG_1410:g.13748G>A
  • LRG_1410p1:p.Arg129His
  • NC_000001.10:g.226259155G>A
Protein change:
R129H; ARG129HIS
Links:
OMIM: 601128.0007; dbSNP: rs1658121882
NCBI 1000 Genomes Browser:
rs1658121882
Molecular consequence:
  • NM_001379043.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379045.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379046.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379047.1:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002107.7:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Name:
Brain imaging abnormality
Identifiers:
MedGen: C2711610; Human Phenotype Ontology: HP:0410263

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001759943Baylor Genetics
no assertion criteria provided
Likely pathogenic
(Jul 15, 2021) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch

Details of each submission

From Baylor Genetics, SCV001759943.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024