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NM_030948.6(PHACTR1):c.1688C>G (p.Thr563Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 28, 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:
RCV004342753.1

Allele description [Variation Report for NM_030948.6(PHACTR1):c.1688C>G (p.Thr563Ser)]

NM_030948.6(PHACTR1):c.1688C>G (p.Thr563Ser)

Genes:
TBC1D7-LOC100130357:TBC1D7-LOC100130357 readthrough [Gene]
PHACTR1:phosphatase and actin regulator 1 [Gene - OMIM - HGNC]
LOC100130357:uncharacterized LOC100130357 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.1
Genomic location:
Preferred name:
NM_030948.6(PHACTR1):c.1688C>G (p.Thr563Ser)
HGVS:
  • NC_000006.12:g.13286183C>G
  • NM_001242648.4:c.1688C>G
  • NM_001318809.2:c.*40-18348G>C
  • NM_001322308.3:c.1688C>G
  • NM_001322309.3:c.1688C>G
  • NM_001322310.2:c.1895C>G
  • NM_001322311.2:c.1412C>G
  • NM_001322312.3:c.1412C>G
  • NM_001322313.2:c.1619C>G
  • NM_001322314.4:c.1898C>G
  • NM_001374581.2:c.1688C>G
  • NM_001374583.2:c.1412C>G
  • NM_030948.6:c.1688C>GMANE SELECT
  • NP_001229577.1:p.Thr563Ser
  • NP_001309237.1:p.Thr563Ser
  • NP_001309238.1:p.Thr563Ser
  • NP_001309239.1:p.Thr632Ser
  • NP_001309240.1:p.Thr471Ser
  • NP_001309241.1:p.Thr471Ser
  • NP_001309242.1:p.Thr540Ser
  • NP_001309243.1:p.Thr633Ser
  • NP_001361510.1:p.Thr563Ser
  • NP_001361512.1:p.Thr471Ser
  • NP_112210.1:p.Thr563Ser
  • NC_000006.11:g.13286415C>G
  • NM_030948.2:c.1688C>G
Protein change:
T471S
Molecular consequence:
  • NM_001318809.2:c.*40-18348G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001242648.4:c.1688C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322308.3:c.1688C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322309.3:c.1688C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322310.2:c.1895C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322311.2:c.1412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322312.3:c.1412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322313.2:c.1619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322314.4:c.1898C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374581.2:c.1688C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374583.2:c.1412C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030948.6:c.1688C>G - 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
SCV004065841Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 28, 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, SCV004065841.2

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

Description

The c.1688C>G (p.T563S) alteration is located in exon 14 (coding exon 12) of the PHACTR1 gene. This alteration results from a C to G substitution at nucleotide position 1688, causing the threonine (T) at amino acid position 563 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: Nov 3, 2024