U.S. flag

An official website of the United States government

NM_138381.5(OXNAD1):c.184A>G (p.Ile62Val) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 6, 2022
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV004197125.1

Allele description [Variation Report for NM_138381.5(OXNAD1):c.184A>G (p.Ile62Val)]

NM_138381.5(OXNAD1):c.184A>G (p.Ile62Val)

Genes:
LOC129936290:ATAC-STARR-seq lymphoblastoid silent region 14113 [Gene]
OXNAD1:oxidoreductase NAD binding domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_138381.5(OXNAD1):c.184A>G (p.Ile62Val)
HGVS:
  • NC_000003.12:g.16286342A>G
  • NG_169301.1:g.182A>G
  • NM_001330670.3:c.238A>G
  • NM_001330671.3:c.238A>G
  • NM_001352977.2:c.184A>G
  • NM_001352978.2:c.184A>G
  • NM_001352980.2:c.103A>G
  • NM_001352981.2:c.103A>G
  • NM_001352982.2:c.103A>G
  • NM_001352983.2:c.103A>G
  • NM_138381.5:c.184A>GMANE SELECT
  • NP_001317599.1:p.Ile80Val
  • NP_001317600.1:p.Ile80Val
  • NP_001339906.1:p.Ile62Val
  • NP_001339907.1:p.Ile62Val
  • NP_001339909.1:p.Ile35Val
  • NP_001339910.1:p.Ile35Val
  • NP_001339911.1:p.Ile35Val
  • NP_001339912.1:p.Ile35Val
  • NP_612390.1:p.Ile62Val
  • NC_000003.11:g.16327849A>G
  • NM_138381.3:c.184A>G
  • NR_148217.2:n.813A>G
  • NR_148218.2:n.813A>G
  • NR_148219.2:n.710A>G
  • NR_148220.2:n.710A>G
...more
Protein change:
I35V
Molecular consequence:
  • NM_001330670.3:c.238A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330671.3:c.238A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352977.2:c.184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352978.2:c.184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352980.2:c.103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352981.2:c.103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352982.2:c.103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352983.2:c.103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138381.5:c.184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148217.2:n.813A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148218.2:n.813A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148219.2:n.710A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148220.2:n.710A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003692010Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Likely benign
(Oct 6, 2022)
germlineclinical testing

Citation Link

Last Updated: Nov 10, 2024

External link. Please review our privacy policy.