NM_080833.3(RBBP8NL):c.1708T>C (p.Ser570Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 20, 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:
RCV004365193.1

Allele description [Variation Report for NM_080833.3(RBBP8NL):c.1708T>C (p.Ser570Pro)]

NM_080833.3(RBBP8NL):c.1708T>C (p.Ser570Pro)

Gene:
RBBP8NL:RBBP8 N-terminal like [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_080833.3(RBBP8NL):c.1708T>C (p.Ser570Pro)
HGVS:
  • NC_000020.11:g.62412868A>G
  • NM_080833.3:c.1708T>CMANE SELECT
  • NP_543023.2:p.Ser570Pro
  • NC_000020.10:g.60987924A>G
  • NM_080833.2:c.1708T>C
Protein change:
S570P
Molecular consequence:
  • NM_080833.3:c.1708T>C - 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
SCV004088408Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 20, 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, SCV004088408.2

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

Description

The c.1708T>C (p.S570P) alteration is located in exon 12 (coding exon 11) of the RBBP8NL gene. This alteration results from a T to C substitution at nucleotide position 1708, causing the serine (S) at amino acid position 570 to be replaced by a proline (P). 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 24, 2024