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NM_178857.6(RP1L1):c.1231C>T (p.Pro411Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 4, 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:
RCV002248163.1

Allele description [Variation Report for NM_178857.6(RP1L1):c.1231C>T (p.Pro411Ser)]

NM_178857.6(RP1L1):c.1231C>T (p.Pro411Ser)

Gene:
RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.1
Genomic location:
Preferred name:
NM_178857.6(RP1L1):c.1231C>T (p.Pro411Ser)
HGVS:
  • NC_000008.11:g.10612867G>A
  • NG_028035.1:g.47241C>T
  • NM_178857.6:c.1231C>TMANE SELECT
  • NP_849188.4:p.Pro411Ser
  • NC_000008.10:g.10470377G>A
Protein change:
P411S
Links:
dbSNP: rs754785148
NCBI 1000 Genomes Browser:
rs754785148
Molecular consequence:
  • NM_178857.6:c.1231C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002519282Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Uncertain significance
(May 4, 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 Mendelics, SCV002519282.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023