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NM_001130528.3(SPAG9):c.722G>A (p.Arg241His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 27, 2022
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:
RCV004183291.1

Allele description [Variation Report for NM_001130528.3(SPAG9):c.722G>A (p.Arg241His)]

NM_001130528.3(SPAG9):c.722G>A (p.Arg241His)

Gene:
SPAG9:sperm associated antigen 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_001130528.3(SPAG9):c.722G>A (p.Arg241His)
HGVS:
  • NC_000017.11:g.51041520C>T
  • NG_029710.1:g.84346G>A
  • NM_001130527.3:c.722G>A
  • NM_001130528.3:c.722G>AMANE SELECT
  • NM_001251971.2:c.293G>A
  • NM_003971.6:c.722G>A
  • NP_001123999.1:p.Arg241His
  • NP_001124000.1:p.Arg241His
  • NP_001238900.1:p.Arg98His
  • NP_003962.3:p.Arg241His
  • NC_000017.10:g.49118881C>T
  • NM_001130528.2:c.722G>A
Protein change:
R241H
Molecular consequence:
  • NM_001130527.3:c.722G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130528.3:c.722G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001251971.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003971.6:c.722G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003685072Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 27, 2022) 		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, SCV003685072.2

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

Description

The c.722G>A (p.R241H) alteration is located in exon 5 (coding exon 5) of the SPAG9 gene. This alteration results from a G to A substitution at nucleotide position 722, causing the arginine (R) at amino acid position 241 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: Nov 10, 2024