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NM_001161546.2(PROB1):c.703G>A (p.Gly235Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 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:
RCV004515361.1

Allele description [Variation Report for NM_001161546.2(PROB1):c.703G>A (p.Gly235Ser)]

NM_001161546.2(PROB1):c.703G>A (p.Gly235Ser)

Genes:
LOC129994769:ATAC-STARR-seq lymphoblastoid silent region 16411 [Gene]
PROB1:proline rich basic protein 1 [Gene - HGNC]
SPATA24:spermatogenesis associated 24 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.2
Genomic location:
Preferred name:
NM_001161546.2(PROB1):c.703G>A (p.Gly235Ser)
HGVS:
  • NC_000005.10:g.139394379C>T
  • NG_174215.1:g.150C>T
  • NM_001161546.2:c.703G>AMANE SELECT
  • NP_001155018.1:p.Gly235Ser
  • NC_000005.9:g.138730068C>T
  • NM_001161546.1:c.703G>A
Protein change:
G235S
Molecular consequence:
  • NM_001161546.2:c.703G>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
SCV005010969Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 22, 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, SCV005010969.1

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

Description

The c.703G>A (p.G235S) alteration is located in exon 1 (coding exon 1) of the PROB1 gene. This alteration results from a G to A substitution at nucleotide position 703, causing the glycine (G) at amino acid position 235 to be replaced by a serine (S). 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: May 7, 2024