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NM_178424.2(SOX30):c.488C>T (p.Ser163Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2023
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:
RCV004264724.1

Allele description [Variation Report for NM_178424.2(SOX30):c.488C>T (p.Ser163Phe)]

NM_178424.2(SOX30):c.488C>T (p.Ser163Phe)

Gene:
SOX30:SRY-box transcription factor 30 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.3
Genomic location:
Preferred name:
NM_178424.2(SOX30):c.488C>T (p.Ser163Phe)
HGVS:
  • NC_000005.10:g.157651591G>A
  • NM_001308165.2:c.53-2695C>T
  • NM_007017.3:c.488C>T
  • NM_178424.2:c.488C>TMANE SELECT
  • NP_008948.1:p.Ser163Phe
  • NP_848511.1:p.Ser163Phe
  • NC_000005.9:g.157078599G>A
  • NM_178424.1:c.488C>T
Protein change:
S163F
Molecular consequence:
  • NM_001308165.2:c.53-2695C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007017.3:c.488C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178424.2:c.488C>T - 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
SCV003883376Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 6, 2023) 		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, SCV003883376.2

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

Description

The c.488C>T (p.S163F) alteration is located in exon 1 (coding exon 1) of the SOX30 gene. This alteration results from a C to T substitution at nucleotide position 488, causing the serine (S) at amino acid position 163 to be replaced by a phenylalanine (F). 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: Oct 26, 2024