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NM_003114.5(SPAG1):c.395G>A (p.Arg132His) AND Primary ciliary dyskinesia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 30, 2024
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:
RCV004044436.1

Allele description [Variation Report for NM_003114.5(SPAG1):c.395G>A (p.Arg132His)]

NM_003114.5(SPAG1):c.395G>A (p.Arg132His)

Gene:
SPAG1:sperm associated antigen 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.2
Genomic location:
Preferred name:
NM_003114.5(SPAG1):c.395G>A (p.Arg132His)
HGVS:
  • NC_000008.11:g.100177910G>A
  • NG_033834.2:g.24876G>A
  • NM_001374321.1:c.395G>A
  • NM_003114.5:c.395G>AMANE SELECT
  • NM_172218.2:c.395G>A
  • NM_172218.3:c.395G>A
  • NP_001361250.1:p.Arg132His
  • NP_003105.2:p.Arg132His
  • NP_757367.1:p.Arg132His
  • NC_000008.10:g.101190138G>A
Protein change:
R132H
Links:
dbSNP: rs545486340
NCBI 1000 Genomes Browser:
rs545486340
Molecular consequence:
  • NM_001374321.1:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003114.5:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172218.3:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary ciliary dyskinesia
Synonyms:
Ciliary dyskinesia
Identifiers:
MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004957789Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 30, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004957789.1

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

Description

The c.395G>A (p.R132H) alteration is located in exon 4 (coding exon 3) of the SPAG1 gene. This alteration results from a G to A substitution at nucleotide position 395, causing the arginine (R) at amino acid position 132 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024