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NM_001134673.4(NFIA):c.1083G>A (p.Pro361=) AND Chromosome 1p32-p31 deletion syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 5, 2021
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:
RCV001780432.2

Allele description [Variation Report for NM_001134673.4(NFIA):c.1083G>A (p.Pro361=)]

NM_001134673.4(NFIA):c.1083G>A (p.Pro361=)

Gene:
NFIA:nuclear factor I A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_001134673.4(NFIA):c.1083G>A (p.Pro361=)
HGVS:
  • NC_000001.11:g.61404111G>A
  • NG_011787.2:g.331838G>A
  • NM_001134673.4:c.1083G>AMANE SELECT
  • NM_001145511.2:c.1059G>A
  • NM_001145512.2:c.1218G>A
  • NM_005595.5:c.1083G>A
  • NP_001128145.1:p.Pro361=
  • NP_001138983.1:p.Pro353=
  • NP_001138984.1:p.Pro406=
  • NP_005586.1:p.Pro361=
  • NC_000001.10:g.61869783G>A
  • NM_005595.4:c.1083G>A
Links:
dbSNP: rs2236059
NCBI 1000 Genomes Browser:
rs2236059
Molecular consequence:
  • NM_001134673.4:c.1083G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001145511.2:c.1059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001145512.2:c.1218G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005595.5:c.1083G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Chromosome 1p32-p31 deletion syndrome
Identifiers:
MONDO: MONDO:0013396; MedGen: C4707828; Orphanet: 401986

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002026749Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 5, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002026749.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024